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Volumn 77, Issue , 2015, Pages 525-541

Episodic and electrical nervous system disorders caused by nonchannel genes

Author keywords

Channelopathies; Epilepsy; Familial disorders; Migraine; Nonchannel causes of electrical diseases

Indexed keywords

CASEIN KINASE IDELTA; GLUCOSE TRANSPORTER 1; NOL3 PROTEIN; PROTEIN; PRRT2 PROTEIN; UNCLASSIFIED DRUG; APOPTOSIS REGULATORY PROTEIN; G PROTEIN COUPLED RECEPTOR; MASS1 PROTEIN, MOUSE; MEMBRANE PROTEIN; MUSCLE PROTEIN; NERVE PROTEIN; NOL3 PROTEIN, HUMAN; PRRT2 PROTEIN, HUMAN;

EID: 84922819992     PISSN: 00664278     EISSN: 15451585     Source Type: Book Series    
DOI: 10.1146/annurev-physiol-021014-071814     Document Type: Article
Times cited : (7)

References (139)
  • 1
    • 0036365675 scopus 로고    scopus 로고
    • Molecular biology of episodic movement disorders
    • Ptacek LJ, Fu YH. 2002. Molecular biology of episodic movement disorders. Adv. Neurol. 89:453-58
    • (2002) Adv. Neurol. , vol.89 , pp. 453-458
    • Ptacek, L.J.1    Fu, Y.H.2
  • 2
    • 77957896478 scopus 로고    scopus 로고
    • Episodic neurological channelopathies
    • Ryan DP, Ptáček LJ. 2010. Episodic neurological channelopathies. Neuron 68:282-92
    • (2010) Neuron , vol.68 , pp. 282-292
    • Ryan, D.P.1    Ptáček, L.J.2
  • 4
    • 19944402859 scopus 로고    scopus 로고
    • Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria
    • Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, et al. 2004. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 63:2280-87
    • (2004) Neurology , vol.63 , pp. 2280-2287
    • Bruno, M.K.1    Hallett, M.2    Gwinn-Hardy, K.3    Sorensen, B.4    Considine, E.5
  • 5
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, et al. 2012. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep. 1:2-12
    • (2012) Cell Rep. , vol.1 , pp. 2-12
    • Lee, H.Y.1    Huang, Y.2    Bruneau, N.3    Roll, P.4    Roberson, E.D.5
  • 6
    • 0033868150 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies
    • Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, et al. 2000. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 55:224-30
    • (2000) Neurology , vol.55 , pp. 224-230
    • Swoboda, K.J.1    Soong, B.2    McKenna, C.3    Brunt, E.R.4    Litt, M.5
  • 7
    • 0000738544 scopus 로고
    • Familial paroxysmal choreoathetosis: Preliminary report on a hitherto undescribed clinical syndrome
    • Mount LA, Reback S. 1940. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch. Neurol. Psychiat. 44:841-47
    • (1940) Arch. Neurol. Psychiat. , vol.44 , pp. 841-847
    • Mount, L.A.1    Reback, S.2
  • 8
    • 34249086525 scopus 로고    scopus 로고
    • Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
    • Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, et al. 2007. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 68:1782-89
    • (2007) Neurology , vol.68 , pp. 1782-1789
    • Bruno, M.K.1    Lee, H.Y.2    Auburger, G.W.3    Friedman, A.4    Nielsen, J.E.5
  • 9
    • 0017616188 scopus 로고
    • Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes
    • Lance JW. 1977. Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. Ann. Neurol. 2:285-93
    • (1977) Ann. Neurol. , vol.2 , pp. 285-293
    • Lance, J.W.1
  • 10
    • 79957599929 scopus 로고    scopus 로고
    • Paroxysmal dyskinesias
    • Bhatia KP. 2011. Paroxysmal dyskinesias. Mov. Disord. 26:1157-65
    • (2011) Mov. Disord. , vol.26 , pp. 1157-1165
    • Bhatia, K.P.1
  • 11
    • 84879917461 scopus 로고    scopus 로고
    • The genetics of dystonia: New twists in an old tale
    • Charlesworth G, Bhatia KP,Wood NW. 2013. The genetics of dystonia: new twists in an old tale. Brain 136:2017-37
    • (2013) Brain , vol.136 , pp. 2017-2037
    • Charlesworth, G.1    Bhatia, K.P.2    Wood, N.W.3
  • 15
    • 0032522230 scopus 로고    scopus 로고
    • Geneticmapping of a locus (mass1) causing audiogenic seizures in mice
    • Skradski SL,White HS, Ptáček LJ. 1998. Geneticmapping of a locus (mass1) causing audiogenic seizures in mice. Genomics 49:188-92
    • (1998) Genomics , vol.49 , pp. 188-192
    • Skradski, S.L.1    White, H.S.2    Ptáček, L.J.3
  • 17
    • 24144433837 scopus 로고    scopus 로고
    • Auditory deficits associated with the Frings Mgr1 (Mass1) mutation in mice
    • Klein BD, Fu YH, Ptacek LJ, White HS. 2005. Auditory deficits associated with the Frings Mgr1 (Mass1) mutation in mice. Dev. Neurosci. 27:321-32
    • (2005) Dev. Neurosci. , vol.27 , pp. 321-332
    • Klein, B.D.1    Fu, Y.H.2    Ptacek, L.J.3    White, H.S.4
  • 18
    • 84922763851 scopus 로고    scopus 로고
    • Deleted in proof
    • Deleted in proof
  • 19
    • 16244371351 scopus 로고    scopus 로고
    • The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC
    • Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K. 2005. The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics 85:582-90
    • (2005) Genomics , vol.85 , pp. 582-590
    • Johnson, K.R.1    Zheng, Q.Y.2    Weston, M.D.3    Ptacek, L.J.4    Noben-Trauth, K.5
  • 20
  • 21
    • 29244457858 scopus 로고    scopus 로고
    • Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation
    • Deprez L, Claes LR, Claeys KG, Audenaert D, Van Dyck T, et al. 2006. Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation. Hum. Genet. 118:618-25
    • (2006) Hum. Genet. , vol.118 , pp. 618-625
    • Deprez, L.1    Claes, L.R.2    Claeys, K.G.3    Audenaert, D.4    Van Dyck, T.5
  • 22
    • 0036828830 scopus 로고    scopus 로고
    • A nonsensemutation of the MASS1 gene in a family with febrile and afebrile seizures
    • Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, et al. 2002. A nonsensemutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann. Neurol. 52:654-57
    • (2002) Ann. Neurol. , vol.52 , pp. 654-657
    • Nakayama, J.1    Fu, Y.H.2    Clark, A.M.3    Nakahara, S.4    Hamano, K.5
  • 23
    • 84855696019 scopus 로고    scopus 로고
    • Usher syndrome (sensorineural deafness and retinitis pigmentosa): Pathogenesis, molecular diagnosis and therapeutic approaches
    • Bonnet C, El-Amraoui A. 2012. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr. Opin. Neurol. 25:42-49
    • (2012) Curr. Opin. Neurol. , vol.25 , pp. 42-49
    • Bonnet, C.1    El-Amraoui, A.2
  • 24
    • 77954161995 scopus 로고    scopus 로고
    • Genetics and pathological mechanisms of Usher syndrome
    • YanD, Liu XZ. 2010. Genetics and pathological mechanisms of Usher syndrome. J. Hum. Genet. 55:327-35
    • (2010) J. Hum. Genet. , vol.55 , pp. 327-335
    • Yan, D.1    Liu, X.Z.2
  • 27
    • 84874344796 scopus 로고    scopus 로고
    • The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort
    • Garcia-Garcia G, Besnard T, Baux D, Vache C, Aller E, et al. 2013. The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Mol. Vis. 19:367-73
    • (2013) Mol. Vis. , vol.19 , pp. 367-373
    • Garcia-Garcia, G.1    Besnard, T.2    Baux, D.3    Vache, C.4    Aller, E.5
  • 28
    • 65949124017 scopus 로고    scopus 로고
    • A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family
    • Hilgert N, Kahrizi K, Dieltjens N, Bazazzadegan N, Najmabadi H, et al. 2009. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J. Med. Genet. 46:272-76
    • (2009) J. Med. Genet. , vol.46 , pp. 272-276
    • Hilgert, N.1    Kahrizi, K.2    Dieltjens, N.3    Bazazzadegan, N.4    Najmabadi, H.5
  • 29
    • 62849083861 scopus 로고    scopus 로고
    • Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
    • Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, et al. 2009. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. Eur. J. Hum. Genet. 17:474-82
    • (2009) Eur. J. Hum. Genet. , vol.17 , pp. 474-482
    • Hmani-Aifa, M.1    Benzina, Z.2    Zulfiqar, F.3    Dhouib, H.4    Shahzadi, A.5
  • 30
    • 84855992951 scopus 로고    scopus 로고
    • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
    • Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, et al. 2012. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J. Med. Genet. 49:27-36
    • (2012) J. Med. Genet. , vol.49 , pp. 27-36
    • Le Quesne, S.P.1    Saihan, Z.2    Rangesh, N.3    Steele-Stallard, H.B.4    Ambrose, J.5
  • 31
  • 33
    • 0037016757 scopus 로고    scopus 로고
    • Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system
    • McMillan DR, Kayes-Wandover KM, Richardson JA, White PC. 2002. Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system. J. Biol. Chem. 277:785-92
    • (2002) J. Biol. Chem. , vol.277 , pp. 785-792
    • McMillan, D.R.1    Kayes-Wandover, K.M.2    Richardson, J.A.3    White, P.C.4
  • 34
    • 0037098957 scopus 로고    scopus 로고
    • A common protein interaction domain links two recently identified epilepsy genes
    • Scheel H, Tomiuk S, Hofmann K. 2002. A common protein interaction domain links two recently identified epilepsy genes. Hum. Mol. Genet. 11:1757-62
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1757-1762
    • Scheel, H.1    Tomiuk, S.2    Hofmann, K.3
  • 35
    • 18544376557 scopus 로고    scopus 로고
    • Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
    • Kalachikov S, Evgrafov O, Ross B, Winawer M, Barker-Cummings C, et al. 2002. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 30:335-41
    • (2002) Nat. Genet. , vol.30 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3    Winawer, M.4    Barker-Cummings, C.5
  • 37
    • 13244261194 scopus 로고    scopus 로고
    • Vlgr1 knockout mice show audiogenic seizure susceptibility
    • Yagi H, Takamura Y, Yoneda T, Konno D, Akagi Y, et al. 2005. Vlgr1 knockout mice show audiogenic seizure susceptibility. J. Neurochem. 92:191-202
    • (2005) J. Neurochem. , vol.92 , pp. 191-202
    • Yagi, H.1    Takamura, Y.2    Yoneda, T.3    Konno, D.4    Akagi, Y.5
  • 38
    • 2942633028 scopus 로고    scopus 로고
    • Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures inmice
    • McMillan DR,White PC. 2004. Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures inmice. Mol. Cell. Neurosci. 26:322-29
    • (2004) Mol. Cell. Neurosci. , vol.26 , pp. 322-329
    • McMillan, D.R.1    White, P.C.2
  • 39
    • 84867270247 scopus 로고    scopus 로고
    • Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network
    • GratiM, Shin JB, Weston MD, Green J, Bhat MA, et al. 2012. Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J. Neurosci. 32:14288-93
    • (2012) J. Neurosci. , vol.32 , pp. 14288-14293
    • Grati, M.1    Shin, J.B.2    Weston, M.D.3    Green, J.4    Bhat, M.A.5
  • 40
    • 33745787321 scopus 로고    scopus 로고
    • The very large G-proteincoupled receptor VLGR1: A component of the ankle link complex required for the normal development of auditory hair bundles
    • McGee J, Goodyear RJ, McMillan DR, Stauffer EA, Holt JR, et al. 2006. The very large G-proteincoupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J. Neurosci. 26:6543-53
    • (2006) J. Neurosci. , vol.26 , pp. 6543-6553
    • McGee, J.1    Goodyear, R.J.2    McMillan, D.R.3    Stauffer, E.A.4    Holt, J.R.5
  • 41
    • 84888113293 scopus 로고    scopus 로고
    • MASS1 regulates MAG expression via Gαs/Gαq-mediated PKA/PKC pathways
    • Shin D, Lin S-T, Fu Y-H, Ptáček LJ. 2013. MASS1 regulates MAG expression via Gαs/Gαq-mediated PKA/PKC pathways. PNAS 110:19101-6
    • (2013) PNAS , vol.110 , pp. 19101-19106
    • Shin, D.1    Lin, S.-T.2    Fu, Y.-H.3    Ptáček, L.J.4
  • 42
    • 13244279382 scopus 로고    scopus 로고
    • Electrophysiological studies of myoclonus
    • Shibasaki H, Hallett M. 2005. Electrophysiological studies of myoclonus. Muscle Nerve 31:157-74
    • (2005) Muscle Nerve , vol.31 , pp. 157-174
    • Shibasaki, H.1    Hallett, M.2
  • 43
    • 0036790909 scopus 로고    scopus 로고
    • Myoclonus-dystonia syndrome: Sarcoglycan mutations and phenotype
    • Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, et al. 2002. Myoclonus-dystonia syndrome: ε-sarcoglycan mutations and phenotype. Ann. Neurol. 52:489-92
    • (2002) Ann. Neurol. , vol.52 , pp. 489-492
    • Asmus, F.1    Zimprich, A.2    Tezenas, D.M.S.3    Kabus, C.4    Deuschl, G.5
  • 44
    • 17944378309 scopus 로고    scopus 로고
    • Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
    • Zimprich A, GrabowskiM, Asmus F, Naumann M, Berg D, et al. 2001. Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet. 29:66-69
    • (2001) Nat. Genet. , vol.29 , pp. 66-69
    • Zimprich, A.1    Grabowski, M.2    Asmus, F.3    Naumann, M.4    Berg, D.5
  • 47
    • 0032574745 scopus 로고    scopus 로고
    • ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases
    • Koseki T, Inohara N, Chen S, Nunez G. 1998. ARC, an inhibitor of apoptosis expressed in skeletal muscle and heart that interacts selectively with caspases. PNAS 95:5156-60
    • (1998) PNAS , vol.95 , pp. 5156-5160
    • Koseki, T.1    Inohara, N.2    Chen, S.3    Nunez, G.4
  • 48
    • 0037362863 scopus 로고    scopus 로고
    • Lifelong caloric restriction increases expression of apoptosis repressor with a caspase recruitment domain (ARC) in the brain
    • Shelke RR, Leeuwenburgh C. 2003. Lifelong caloric restriction increases expression of apoptosis repressor with a caspase recruitment domain (ARC) in the brain. FASEB J. 17:494-96
    • (2003) FASEB J. , vol.17 , pp. 494-496
    • Shelke, R.R.1    Leeuwenburgh, C.2
  • 49
    • 0032563323 scopus 로고    scopus 로고
    • Solution structure of the RAIDD CARD and model for CARD/CARD interaction in caspase-2 and caspase-9 recruitment
    • Chou JJ, Matsuo H, Duan H, Wagner G. 1998. Solution structure of the RAIDD CARD and model for CARD/CARD interaction in caspase-2 and caspase-9 recruitment. Cell 94:171-80
    • (1998) Cell , vol.94 , pp. 171-180
    • Chou, J.J.1    Matsuo, H.2    Duan, H.3    Wagner, G.4
  • 50
    • 0033613210 scopus 로고    scopus 로고
    • Solution structure ofApaf-1CARDand its interaction with caspase-9 CARD: A structural basis for specific adaptor/caspase interaction
    • Zhou P, Chou J, Olea RS,Yuan J,WagnerG. 1999. Solution structure ofApaf-1CARDand its interaction with caspase-9 CARD: a structural basis for specific adaptor/caspase interaction. PNAS 96:11265-70
    • (1999) PNAS , vol.96 , pp. 11265-11270
    • Zhou, P.1    Chou, J.2    Olea, R.S.3    Yuan, J.4    Wagner, G.5
  • 51
    • 33645522627 scopus 로고    scopus 로고
    • Apoptosis repressor with caspase recruitment domain is required for cardioprotection in response to biomechanical and ischemic stress
    • Donath S, Li P, Willenbockel C, Al-Saadi N, Gross V, et al. 2006. Apoptosis repressor with caspase recruitment domain is required for cardioprotection in response to biomechanical and ischemic stress. Circulation 113:1203-12
    • (2006) Circulation , vol.113 , pp. 1203-1212
    • Donath, S.1    Li, P.2    Willenbockel, C.3    Al-Saadi, N.4    Gross, V.5
  • 52
  • 53
    • 4644354531 scopus 로고    scopus 로고
    • Inhibition of both the extrinsic and intrinsic death pathways through nonhomotypic death-fold interactions
    • Nam YJ, Mani K, Ashton AW, Peng CF, Krishnamurthy B, et al. 2004. Inhibition of both the extrinsic and intrinsic death pathways through nonhomotypic death-fold interactions. Mol. Cell 15:901-12
    • (2004) Mol. Cell , vol.15 , pp. 901-912
    • Nam, Y.J.1    Mani, K.2    Ashton, A.W.3    Peng, C.F.4    Krishnamurthy, B.5
  • 56
    • 80054852496 scopus 로고    scopus 로고
    • New directions in migraine
    • Weir GA, Cader MZ. 2011. New directions in migraine. BMC Med. 9:116
    • (2011) BMC Med. , vol.9 , pp. 116
    • Weir, G.A.1    Cader, M.Z.2
  • 57
    • 84884759357 scopus 로고    scopus 로고
    • The molecular pathogenesis of migraine: New developments and opportunities
    • Zameel CaderM. 2013. The molecular pathogenesis of migraine: new developments and opportunities. Hum. Mol. Genet. 22:R39-44
    • (2013) Hum. Mol. Genet. , vol.22 , pp. R39-44
    • Zameel, C.M.1
  • 59
    • 84870384265 scopus 로고    scopus 로고
    • Migraine headache: A review of the molecular genetics of a common disorder
    • Di Lorenzo C, Grieco GS, Santorelli FM. 2012. Migraine headache: a review of the molecular genetics of a common disorder. J. Headache Pain 13:571-80
    • (2012) J. Headache Pain , vol.13 , pp. 571-580
    • Di Lorenzo, C.1    Grieco, G.S.2    Santorelli, F.M.3
  • 60
    • 84884133088 scopus 로고    scopus 로고
    • Migraine genetics: Part II
    • Silberstein SD, Dodick DW. 2013. Migraine genetics: part II. Headache 53:1218-29
    • (2013) Headache , vol.53 , pp. 1218-1229
    • Silberstein, S.D.1    Dodick, D.W.2
  • 61
    • 16044370232 scopus 로고    scopus 로고
    • Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
    • Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, et al. 1996. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87:543-52
    • (1996) Cell , vol.87 , pp. 543-552
    • Ophoff, R.A.1    Terwindt, G.M.2    Vergouwe, M.N.3    Van Eijk, R.4    Oefner, P.J.5
  • 62
    • 0036279411 scopus 로고    scopus 로고
    • Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine
    • Terwindt G, Kors E, Haan J, Vermeulen F, van den Maagdenberg A, et al. 2002. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Arch. Neurol. 59:1016-18
    • (2002) Arch. Neurol. , vol.59 , pp. 1016-1018
    • Terwindt, G.1    Kors, E.2    Haan, J.3    Vermeulen, F.4    Van Den Maagdenberg, A.5
  • 63
    • 0037312922 scopus 로고    scopus 로고
    • Haploinsufficiency of ATP1A2 encoding theNa+/K+ pump α2 subunit associated with familial hemiplegic migraine type2
    • De FuscoM,Marconi R, Silvestri L, Atorino L, Rampoldi L, et al. 2003. Haploinsufficiency of ATP1A2 encoding theNa+/K+ pump α2 subunit associated with familial hemiplegic migraine type2. Nat. Genet. 33:192-96
    • (2003) Nat. Genet. , vol.33 , pp. 192-196
    • De Fusco, M.1    Marconi, R.2    Silvestri, L.3    Atorino, L.4    Rampoldi, L.5
  • 64
    • 0041835844 scopus 로고    scopus 로고
    • Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions
    • Vanmolkot KR, Kors EE, Hottenga JJ, Terwindt GM, Haan J, et al. 2003. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann. Neurol. 54:360-66
    • (2003) Ann. Neurol. , vol.54 , pp. 360-366
    • Vanmolkot, K.R.1    Kors, E.E.2    Hottenga, J.J.3    Terwindt, G.M.4    Haan, J.5
  • 65
    • 23044459961 scopus 로고    scopus 로고
    • Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
    • Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, et al. 2005. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366:371-77
    • (2005) Lancet , vol.366 , pp. 371-377
    • Dichgans, M.1    Freilinger, T.2    Eckstein, G.3    Babini, E.4    Lorenz-Depiereux, B.5
  • 66
    • 65249130529 scopus 로고    scopus 로고
    • Elicited repetitive daily blindness: A new phenotype associated with hemiplegic migraine and SCN1A mutations
    • Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, et al. 2009. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology 72:1178-83
    • (2009) Neurology , vol.72 , pp. 1178-1183
    • Vahedi, K.1    Depienne, C.2    Le Fort, D.3    Riant, F.4    Chaine, P.5
  • 68
    • 15844420887 scopus 로고    scopus 로고
    • Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome
    • Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, et al. 2005. Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome. Nature 434:640-44
    • (2005) Nature , vol.434 , pp. 640-644
    • Xu, Y.1    Padiath, Q.S.2    Shapiro, R.E.3    Jones, C.R.4    Wu, S.C.5
  • 69
    • 13844294211 scopus 로고    scopus 로고
    • The casein kinase 1 family: Participation in multiple cellular processes in eukaryotes
    • Knippschild U, Gocht A, Wolff S, Huber N, Lohler J, Stoter M. 2005. The casein kinase 1 family: participation in multiple cellular processes in eukaryotes. Cell. Signal. 17:675-89
    • (2005) Cell. Signal. , vol.17 , pp. 675-689
    • Knippschild, U.1    Gocht, A.2    Wolff, S.3    Huber, N.4    Lohler, J.5    Stoter, M.6
  • 70
    • 84904662259 scopus 로고    scopus 로고
    • The CK1 family: Contribution to cellular stress response and its role in carcinogenesis
    • Knippschild U, Kruger M, Richter J, Xu P, Garcia-Reyes B, et al. 2014. The CK1 family: contribution to cellular stress response and its role in carcinogenesis. Front. Oncol. 4:96
    • (2014) Front. Oncol. , vol.4 , pp. 96
    • Knippschild, U.1    Kruger, M.2    Richter, J.3    Xu, P.4    Garcia-Reyes, B.5
  • 71
    • 84887239328 scopus 로고    scopus 로고
    • Cortical spreading depression and migraine
    • Charles AC, Baca SM. 2013. Cortical spreading depression and migraine. Nat. Rev. Neurol. 9:637-44
    • (2013) Nat. Rev. Neurol. , vol.9 , pp. 637-644
    • Charles, A.C.1    Baca, S.M.2
  • 72
    • 0037039391 scopus 로고    scopus 로고
    • Metabolic inhibition induces opening of unapposed connexin 43 gap junction hemichannels and reduces gap junctional communication in cortical astrocytes in culture
    • Contreras JE, Sanchez HA, Eugenin EA, Speidel D, Theis M, et al. 2002. Metabolic inhibition induces opening of unapposed connexin 43 gap junction hemichannels and reduces gap junctional communication in cortical astrocytes in culture. PNAS 99:495-500
    • (2002) PNAS , vol.99 , pp. 495-500
    • Contreras, J.E.1    Sanchez, H.A.2    Eugenin, E.A.3    Speidel, D.4    Theis, M.5
  • 73
    • 0037155841 scopus 로고    scopus 로고
    • Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels
    • Stout CE, Costantin JL, Naus CC, Charles AC. 2002. Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels. J. Biol. Chem. 277:10482-88
    • (2002) J. Biol. Chem. , vol.277 , pp. 10482-10488
    • Stout, C.E.1    Costantin, J.L.2    Naus, C.C.3    Charles, A.C.4
  • 74
    • 0037531231 scopus 로고    scopus 로고
    • Functional hemichannels in astrocytes: A novel mechanism of glutamate release
    • Ye ZC, Wyeth MS, Baltan-Tekkok S, Ransom BR. 2003. Functional hemichannels in astrocytes: a novel mechanism of glutamate release. J. Neurosci. 23:3588-96
    • (2003) J. Neurosci. , vol.23 , pp. 3588-3596
    • Ye, Z.C.1    Wyeth, M.S.2    Baltan-Tekkok, S.3    Ransom, B.R.4
  • 75
    • 0037160066 scopus 로고    scopus 로고
    • Casein kinase 1 regulates connexin-43 gap junction assembly
    • Cooper CD, Lampe PD. 2002. Casein kinase 1 regulates connexin-43 gap junction assembly. J. Biol. Chem. 277:44962-68
    • (2002) J. Biol. Chem. , vol.277 , pp. 44962-44968
    • Cooper, C.D.1    Lampe, P.D.2
  • 78
    • 84895429192 scopus 로고    scopus 로고
    • Involvement of gap junction channels in the pathophysiology of migraine with aura
    • Sarrouilhe D, Dejean C, Mesnil M. 2014. Involvement of gap junction channels in the pathophysiology of migraine with aura. Front. Physiol. 5:78
    • (2014) Front. Physiol. , vol.5 , pp. 78
    • Sarrouilhe, D.1    Dejean, C.2    Mesnil, M.3
  • 79
    • 64249170988 scopus 로고    scopus 로고
    • Connexin43 phosphorylation: Structural changes and biological effects
    • Solan JL, Lampe PD. 2009. Connexin43 phosphorylation: structural changes and biological effects. Biochem. J. 419:261-72
    • (2009) Biochem. J. , vol.419 , pp. 261-272
    • Solan, J.L.1    Lampe, P.D.2
  • 80
    • 1942470517 scopus 로고    scopus 로고
    • The effects of connexin phosphorylation on gap junctional communication
    • Lampe PD, Lau AF. 2004. The effects of connexin phosphorylation on gap junctional communication. Int. J. Biochem. Cell Biol. 36:1171-86
    • (2004) Int. J. Biochem. Cell Biol. , vol.36 , pp. 1171-1186
    • Lampe, P.D.1    Lau, A.F.2
  • 81
    • 20444411484 scopus 로고    scopus 로고
    • Connexin phosphorylation as a regulatory event linked to gap junction channel assembly
    • Solan JL, Lampe PD. 2005. Connexin phosphorylation as a regulatory event linked to gap junction channel assembly. Biochim. Biophys. Acta 1711:154-63
    • (2005) Biochim. Biophys. Acta , vol.1711 , pp. 154-163
    • Solan, J.L.1    Lampe, P.D.2
  • 82
    • 33748795808 scopus 로고    scopus 로고
    • Analysis of Connexin43 phosphorylated at S325, S328 and S330 in normoxic and ischemic heart
    • Lampe PD, Cooper CD, King TJ, Burt JM. 2006. Analysis of Connexin43 phosphorylated at S325, S328 and S330 in normoxic and ischemic heart. J. Cell Sci. 119:3435-42
    • (2006) J. Cell Sci. , vol.119 , pp. 3435-3442
    • Lampe, P.D.1    Cooper, C.D.2    King, T.J.3    Burt, J.M.4
  • 83
    • 0037320715 scopus 로고    scopus 로고
    • Accelerated hippocampal spreading depression and enhanced locomotory activity inmice with astrocyte-directed inactivation of connexin43
    • Theis M, Jauch R, Zhuo L, Speidel D, Wallraff A, et al. 2003. Accelerated hippocampal spreading depression and enhanced locomotory activity inmice with astrocyte-directed inactivation of connexin43. J. Neurosci. 23:766-76
    • (2003) J. Neurosci. , vol.23 , pp. 766-776
    • Theis, M.1    Jauch, R.2    Zhuo, L.3    Speidel, D.4    Wallraff, A.5
  • 84
    • 19944407549 scopus 로고    scopus 로고
    • The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
    • LeeHY, Xu Y, Huang Y, Ahn AH, AuburgerGW, et al. 2004. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum. Mol. Genet. 13:3161-70
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 3161-3170
    • Lee, H.Y.1    Xu, Y.2    Huang, Y.3    Ahn, A.H.4    Auburger, G.W.5
  • 85
    • 20144389932 scopus 로고    scopus 로고
    • Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: Confirmation in 2 kindreds
    • Chen DH, Matsushita M, Rainier S, Meaney B, Tisch L, et al. 2005. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Arch. Neurol. 62:597-600
    • (2005) Arch. Neurol. , vol.62 , pp. 597-600
    • Chen, D.H.1    Matsushita, M.2    Rainier, S.3    Meaney, B.4    Tisch, L.5
  • 87
    • 33646792971 scopus 로고    scopus 로고
    • Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia
    • Hempelmann A, Kumar S,Muralitharan S, Sander T. 2006. Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. Neurosci. Lett. 402:118-20
    • (2006) Neurosci. Lett. , vol.402 , pp. 118-120
    • Hempelmann, A.1    Kumar, S.2    Muralitharan, S.3    Sander, T.4
  • 88
    • 3142721995 scopus 로고    scopus 로고
    • Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
    • Rainier S, Thomas D, Tokarz D, Ming L, Bui M, et al. 2004. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch. Neurol. 61:1025-29
    • (2004) Arch. Neurol. , vol.61 , pp. 1025-1029
    • Rainier, S.1    Thomas, D.2    Tokarz, D.3    Ming, L.4    Bui, M.5
  • 89
    • 84867885878 scopus 로고    scopus 로고
    • Familial paroxysmal nonkinesigenic dyskinesia: Clinical and genetic analysis of a Taiwanese family
    • Yeh TH, Lin JJ, Lai SC, Wu-Chou YH, Chen AC, et al. 2012. Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. J. Neurol. Sci. 323:80-84
    • (2012) J. Neurol. Sci. , vol.323 , pp. 80-84
    • Yeh, T.H.1    Lin, J.J.2    Lai, S.C.3    Wu-Chou, Y.H.4    Chen, A.C.5
  • 90
    • 61849106125 scopus 로고    scopus 로고
    • Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
    • Ghezzi D, Viscomi C, Ferlini A, Gualandi F, Mereghetti P, et al. 2009. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum. Mol. Genet. 18:1058-64
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1058-1064
    • Ghezzi, D.1    Viscomi, C.2    Ferlini, A.3    Gualandi, F.4    Mereghetti, P.5
  • 91
    • 84863011960 scopus 로고    scopus 로고
    • Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia
    • Lee HY, Nakayama J, Xu Y, Fan X, Karouani M, et al. 2012. Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J. Clin. Investig. 122:507-18
    • (2012) J. Clin. Investig. , vol.122 , pp. 507-518
    • Lee, H.Y.1    Nakayama, J.2    Xu, Y.3    Fan, X.4    Karouani, M.5
  • 92
    • 84863471483 scopus 로고    scopus 로고
    • Molecular organization and plasticity of the cytomatrix at the active zone
    • Gundelfinger ED, Fejtova A. 2011. Molecular organization and plasticity of the cytomatrix at the active zone. Curr. Opin. Neurobiol. 22:423-30
    • (2011) Curr. Opin. Neurobiol. , vol.22 , pp. 423-430
    • Gundelfinger, E.D.1    Fejtova, A.2
  • 93
    • 84857155124 scopus 로고    scopus 로고
    • Pushing synaptic vesicles over the RIM
    • Kaeser PS. 2011. Pushing synaptic vesicles over the RIM. Cell. Logist. 1:106-10
    • (2011) Cell. Logist. , vol.1 , pp. 106-110
    • Kaeser, P.S.1
  • 94
    • 84863856685 scopus 로고    scopus 로고
    • RIM genes differentially contribute to organizing presynaptic release sites
    • Kaeser PS, Deng L, Fan M, Sudhof TC. 2012. RIM genes differentially contribute to organizing presynaptic release sites. PNAS 109:11830-35
    • (2012) PNAS , vol.109 , pp. 11830-11835
    • Kaeser, P.S.1    Deng, L.2    Fan, M.3    Sudhof, T.C.4
  • 95
    • 0023018726 scopus 로고
    • Methylglyoxal in beverages and foods: Its mutagenicity and carcinogenicity
    • NagaoM, Fujita Y, Sugimura T, Kosuge T. 1986. Methylglyoxal in beverages and foods: its mutagenicity and carcinogenicity. IARC Sci. Publ. 1986:283-91
    • (1986) IARC Sci. Publ. , vol.1986 , pp. 283-291
    • Nagao, M.1    Fujita, Y.2    Sugimura, T.3    Kosuge, T.4
  • 96
    • 0025298551 scopus 로고
    • The glyoxalase system: New developments towards functional characterization of a metabolic pathway fundamental to biological life
    • Thornalley PJ. 1990. The glyoxalase system: new developments towards functional characterization of a metabolic pathway fundamental to biological life. Biochem. J. 269:1-11
    • (1990) Biochem. J. , vol.269 , pp. 1-11
    • Thornalley, P.J.1
  • 97
    • 0027454552 scopus 로고
    • The glyoxalase system in health and disease
    • Thornalley PJ. 1993. The glyoxalase system in health and disease. Mol. Aspects Med. 14:287-371
    • (1993) Mol. Aspects Med. , vol.14 , pp. 287-371
    • Thornalley, P.J.1
  • 98
    • 0030176306 scopus 로고    scopus 로고
    • Pharmacology of methylglyoxal: Formation, modification of proteins and nucleic acids, and enzymatic detoxification-A role in pathogenesis and antiproliferative chemotherapy
    • Thornalley PJ. 1996. Pharmacology of methylglyoxal: formation, modification of proteins and nucleic acids, and enzymatic detoxification-A role in pathogenesis and antiproliferative chemotherapy. Gen. Pharmacol. 27:565-73
    • (1996) Gen. Pharmacol. , vol.27 , pp. 565-573
    • Thornalley, P.J.1
  • 99
    • 79957489941 scopus 로고    scopus 로고
    • Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability
    • Shen Y, Lee HY, Rawson J, Ojha S, Babbitt P, et al. 2011. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum. Mol. Genet. 20:2322-32
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2322-2332
    • Shen, Y.1    Lee, H.Y.2    Rawson, J.3    Ojha, S.4    Babbitt, P.5
  • 100
    • 82255186531 scopus 로고    scopus 로고
    • Exome sequencing identifies truncatingmutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
    • Chen WJ,Lin Y, XiongZQ,WeiW,NiW, et al. 2011. Exome sequencing identifies truncatingmutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat. Genet. 43:1252-55
    • (2011) Nat. Genet. , vol.43 , pp. 1252-1255
    • Chen, W.J.1    Lin, Y.2    Xiong, Z.Q.3    Wei, W.4    Ni, W.5
  • 101
    • 84868088726 scopus 로고    scopus 로고
    • PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
    • Cloarec R, Bruneau N, Rudolf G,Massacrier A, SalmiM, et al. 2012. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 79:2097-103
    • (2012) Neurology , vol.79 , pp. 2097-2103
    • Cloarec, R.1    Bruneau, N.2    Rudolf, G.3    Massacrier, A.4    Salmi, M.5
  • 102
    • 84855827661 scopus 로고    scopus 로고
    • PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
    • Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, et al. 2012. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am. J. Hum. Genet. 90:152-60
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 152-160
    • Heron, S.E.1    Grinton, B.E.2    Kivity, S.3    Afawi, Z.4    Zuberi, S.M.5
  • 103
    • 84864762353 scopus 로고    scopus 로고
    • PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort
    • Lee YC, Lee MJ, Yu HY, Chen C, Hsu CH, et al. 2012. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLOS ONE 7:e38543
    • (2012) PLOS ONE , vol.7 , pp. e38543
    • Lee, Y.C.1    Lee, M.J.2    Yu, H.Y.3    Chen, C.4    Hsu, C.H.5
  • 104
    • 84866251560 scopus 로고    scopus 로고
    • PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population
    • Meneret A, Grabli D, Depienne C, Gaudebout C, Picard F, et al. 2012. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 79:170-74
    • (2012) Neurology , vol.79 , pp. 170-174
    • Meneret, A.1    Grabli, D.2    Depienne, C.3    Gaudebout, C.4    Picard, F.5
  • 105
    • 84879462687 scopus 로고    scopus 로고
    • PRRT2 mutation in Japanese children with benign infantile epilepsy
    • Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, et al. 2013. PRRT2 mutation in Japanese children with benign infantile epilepsy. Brain Dev. 35:641-46
    • (2013) Brain Dev. , vol.35 , pp. 641-646
    • Okumura, A.1    Shimojima, K.2    Kubota, T.3    Abe, S.4    Yamashita, S.5
  • 106
    • 84866287779 scopus 로고    scopus 로고
    • PRRT2 mutations are the major cause of benign familial infantile seizures
    • Schubert J, Paravidino R, Becker F, Berger A, Bebek N, et al. 2012. PRRT2 mutations are the major cause of benign familial infantile seizures. Hum. Mutat. 33:1439-43
    • (2012) Hum. Mutat. , vol.33 , pp. 1439-1443
    • Schubert, J.1    Paravidino, R.2    Becker, F.3    Berger, A.4    Bebek, N.5
  • 107
    • 83755205987 scopus 로고    scopus 로고
    • Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
    • Wang JL, Cao L, Li XH, Hu ZM, Li JD, et al. 2011. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 134:3493-501
    • (2011) Brain , vol.134 , pp. 3493-3501
    • Wang, J.L.1    Cao, L.2    Li, X.H.3    Hu, Z.M.4    Li, J.D.5
  • 108
    • 84866437494 scopus 로고    scopus 로고
    • PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
    • Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, et al. 2012. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 79:2115-21
    • (2012) Neurology , vol.79 , pp. 2115-2121
    • Gardiner, A.R.1    Bhatia, K.P.2    Stamelou, M.3    Dale, R.C.4    Kurian, M.A.5
  • 109
    • 84874766771 scopus 로고    scopus 로고
    • Role of PRRT2 in common paroxysmal neurological disorders: A gene with remarkable pleiotropy
    • Heron SE, Dibbens LM. 2013. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J. Med. Genet. 50:133-39
    • (2013) J. Med. Genet. , vol.50 , pp. 133-139
    • Heron, S.E.1    Dibbens, L.M.2
  • 111
    • 84866279746 scopus 로고    scopus 로고
    • Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
    • Hedera P, Xiao J, Puschmann A, Momcilovic D, Wu SW, LeDoux MS. 2012. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. BMC Neurol. 12:93
    • (2012) BMC Neurol. , vol.12 , pp. 93
    • Hedera, P.1    Xiao, J.2    Puschmann, A.3    Momcilovic, D.4    Wu, S.W.5    Ledoux, M.S.6
  • 112
    • 84872300427 scopus 로고    scopus 로고
    • Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia
    • Groffen AJ, Klapwijk T, van Rootselaar AF, Groen JL, Tijssen MA. 2013. Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. J. Neurol. 260:93-99
    • (2013) J. Neurol. , vol.260 , pp. 93-99
    • Groffen, A.J.1    Klapwijk, T.2    Van Rootselaar, A.F.3    Groen, J.L.4    Tijssen, M.A.5
  • 114
    • 84866105879 scopus 로고    scopus 로고
    • PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions
    • van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, et al. 2012. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology 79:777-84
    • (2012) Neurology , vol.79 , pp. 777-784
    • Van Vliet, R.1    Breedveld, G.2    Van De Rijk-Andel, J.3    Brilstra, E.4    Verbeek, N.5
  • 115
    • 15944374827 scopus 로고    scopus 로고
    • Ca2+-regulated exocytosis andSNAREfunction
    • Stojilkovic SS. 2005. Ca2+-regulated exocytosis andSNAREfunction. Trends Endocrinol.Metab. 16:81-83
    • (2005) Trends Endocrinol.Metab. , vol.16 , pp. 81-83
    • Stojilkovic, S.S.1
  • 116
    • 0028107857 scopus 로고
    • Cloning and sequence analysis of the human SNAP25 cDNA
    • Zhao N, HashidaH, Takahashi N, Sakaki Y. 1994. Cloning and sequence analysis of the human SNAP25 cDNA. Gene 145:313-14
    • (1994) Gene , vol.145 , pp. 313-314
    • Zhao, N.1    Hashida, H.2    Takahashi, N.3    Sakaki, Y.4
  • 117
    • 0037033997 scopus 로고    scopus 로고
    • Vesicular restriction of synaptobrevin suggests a role for calcium in membrane fusion
    • Hu K, Carroll J, Fedorovich S, Rickman C, Sukhodub A, Davletov B. 2002. Vesicular restriction of synaptobrevin suggests a role for calcium in membrane fusion. Nature 415:646-50
    • (2002) Nature , vol.415 , pp. 646-650
    • Hu, K.1    Carroll, J.2    Fedorovich, S.3    Rickman, C.4    Sukhodub, A.5    Davletov, B.6
  • 118
    • 0037022308 scopus 로고    scopus 로고
    • The SNARE protein SNAP-25 is linked to fast calcium triggering of exocytosis
    • Sorensen JB, Matti U, Wei SH, Nehring RB, Voets T, et al. 2002. The SNARE protein SNAP-25 is linked to fast calcium triggering of exocytosis. PNAS 99:1627-32
    • (2002) PNAS , vol.99 , pp. 1627-1632
    • Sorensen, J.B.1    Matti, U.2    Wei, S.H.3    Nehring, R.B.4    Voets, T.5
  • 119
    • 0029022960 scopus 로고
    • Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice
    • Chin LS, Li L, Ferreira A, Kosik KS, Greengard P. 1995. Impairment of axonal development and of synaptogenesis in hippocampal neurons of synapsin I-deficient mice. PNAS 92:9230-34
    • (1995) PNAS , vol.92 , pp. 9230-9234
    • Chin, L.S.1    Li, L.2    Ferreira, A.3    Kosik, K.S.4    Greengard, P.5
  • 121
    • 0029059605 scopus 로고
    • Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice
    • Li L, Chin LS, Shupliakov O, Brodin L, Sihra TS, et al. 1995. Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice. PNAS 92:9235-39
    • (1995) PNAS , vol.92 , pp. 9235-9239
    • Li, L.1    Chin, L.S.2    Shupliakov, O.3    Brodin, L.4    Sihra, T.S.5
  • 122
    • 82355181881 scopus 로고    scopus 로고
    • Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion
    • Dale RC,Grattan-Smith P, Fung VS, Peters GB. 2011. Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion. Neurology 77:1401-2
    • (2011) Neurology , vol.77 , pp. 1401-1402
    • Dale, R.C.1    Grattan-Smith, P.2    Fung, V.S.3    Peters, G.B.4
  • 123
    • 84862338009 scopus 로고    scopus 로고
    • Microdeletions detected using chromosome microarray in children with suspected geneticmovement disorders: A single-centre study
    • Dale RC,Grattan-Smith P,NicholsonM, PetersGB. 2012. Microdeletions detected using chromosome microarray in children with suspected geneticmovement disorders: a single-centre study. Dev. Med. Child Neurol. 54:618-23
    • (2012) Dev. Med. Child Neurol. , vol.54 , pp. 618-623
    • Dale, R.C.1    Grattan-Smith, P.2    Nicholson, M.3    Peters, G.B.4
  • 124
    • 69449095251 scopus 로고    scopus 로고
    • 16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child
    • Lipton J, Rivkin MJ. 2009. 16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child. Neurology 73:479-80
    • (2009) Neurology , vol.73 , pp. 479-480
    • Lipton, J.1    Rivkin, M.J.2
  • 125
    • 84888029399 scopus 로고    scopus 로고
    • Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2microdeletion syndrome
    • Weber A, Kohler A, Hahn A, Neubauer B, Muller U. 2013. Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2microdeletion syndrome. Neurogenetics 14:251-53
    • (2013) Neurogenetics , vol.14 , pp. 251-253
    • Weber, A.1    Kohler, A.2    Hahn, A.3    Neubauer, B.4    Muller, U.5
  • 126
    • 77955363549 scopus 로고    scopus 로고
    • Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    • Mullen SA, Suls A, De Jonghe P, Berkovic SF, Scheffer IE. 2010. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 75:432-40
    • (2010) Neurology , vol.75 , pp. 432-440
    • Mullen, S.A.1    Suls, A.2    De Jonghe, P.3    Berkovic, S.F.4    Scheffer, I.E.5
  • 127
    • 46849102968 scopus 로고    scopus 로고
    • Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporterGLUT1
    • Suls A, Dedeken P,Goffin K, Van Esch H, Dupont P, et al. 2008. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporterGLUT1. Brain 131:1831-44
    • (2008) Brain , vol.131 , pp. 1831-1844
    • Suls, A.1    Dedeken, P.2    Goffin, K.3    Van Esch, H.4    Dupont, P.5
  • 128
    • 45749108564 scopus 로고    scopus 로고
    • GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
    • Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, et al. 2008. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J. Clin. Investig. 118:2157-68
    • (2008) J. Clin. Investig. , vol.118 , pp. 2157-2168
    • Weber, Y.G.1    Storch, A.2    Wuttke, T.V.3    Brockmann, K.4    Kempfle, J.5
  • 129
    • 0030027095 scopus 로고    scopus 로고
    • A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
    • Auburger G, Ratzlaff T, Lunkes A, Nelles HW, Leube B, et al. 1996. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 31:90-94
    • (1996) Genomics , vol.31 , pp. 90-94
    • Auburger, G.1    Ratzlaff, T.2    Lunkes, A.3    Nelles, H.W.4    Leube, B.5
  • 130
    • 80054888031 scopus 로고    scopus 로고
    • Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
    • Weber YG, Kamm C, Suls A, Kempfle J, Kotschet K, et al. 2011. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 77:959-64
    • (2011) Neurology , vol.77 , pp. 959-964
    • Weber, Y.G.1    Kamm, C.2    Suls, A.3    Kempfle, J.4    Kotschet, K.5
  • 131
    • 0031469362 scopus 로고    scopus 로고
    • Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters
    • Agus DB, Gambhir SS, Pardridge WM, Spielholz C, Baselga J, et al. 1997. Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J. Clin. Investig. 100:2842-48
    • (1997) J. Clin. Investig. , vol.100 , pp. 2842-2848
    • Agus, D.B.1    Gambhir, S.S.2    Pardridge, W.M.3    Spielholz, C.4    Baselga, J.5
  • 132
    • 40849102818 scopus 로고    scopus 로고
    • Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C
    • Montel-Hagen A, Kinet S, Manel N, Mongellaz C, Prohaska R, et al. 2008. Erythrocyte Glut1 triggers dehydroascorbic acid uptake in mammals unable to synthesize vitamin C. Cell 132:1039-48
    • (2008) Cell , vol.132 , pp. 1039-1048
    • Montel-Hagen, A.1    Kinet, S.2    Manel, N.3    Mongellaz, C.4    Prohaska, R.5
  • 133
    • 0025819954 scopus 로고
    • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
    • De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. 1991. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N. Engl. J. Med. 325:703-9
    • (1991) N. Engl. J. Med. , vol.325 , pp. 703-709
    • De Vivo, D.C.1    Trifiletti, R.R.2    Jacobson, R.I.3    Ronen, G.M.4    Behmand, R.A.5    Harik, S.I.6
  • 134
    • 77950286198 scopus 로고    scopus 로고
    • Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
    • Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, et al. 2010. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 133:655-70
    • (2010) Brain , vol.133 , pp. 655-670
    • Leen, W.G.1    Klepper, J.2    Verbeek, M.M.3    Leferink, M.4    Hofste, T.5
  • 136
    • 67649421265 scopus 로고    scopus 로고
    • The expanding phenotype of GLUT1-deficiency syndrome
    • Brockmann K. 2009. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev. 31:545-52
    • (2009) Brain Dev. , vol.31 , pp. 545-552
    • Brockmann, K.1
  • 137
    • 84888201220 scopus 로고    scopus 로고
    • GLUT1 deficiency syndrome 2013: Current state of the art
    • De Giorgis V, Veggiotti P. 2013. GLUT1 deficiency syndrome 2013: current state of the art. Seizure 22:803-11
    • (2013) Seizure , vol.22 , pp. 803-811
    • De Giorgis, V.1    Veggiotti, P.2
  • 139
    • 84922789145 scopus 로고    scopus 로고
    • Episodic disorders: Channelopathies and beyond
    • Ptáček LJ. 2015. Episodic disorders: channelopathies and beyond. Annu. Rev. Physiol. 77:475-79
    • (2015) Annu. Rev. Physiol. , vol.77 , pp. 475-479
    • Ptáček, L.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.