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Volumn 79, Issue 21, 2012, Pages 2086-2088

Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes

Author keywords

[No Author keywords available]

Indexed keywords

EF HAND DOMAIN CONTAINING PROTEIN 1; ION CHANNEL; PROTEIN; PROTOCADHERIN 19; SYNAPTOSOMAL ASSOCIATED PROTEIN 25; UNCLASSIFIED DRUG;

EID: 84871287650     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182752edd     Document Type: Editorial
Times cited : (17)

References (20)
  • 1
    • 84868088726 scopus 로고    scopus 로고
    • Prrt2 links infantile convulsions and paroxysmal dyskinesia with migraine
    • Cloarec R, Bruneau N, Rudolf G, et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology 2012;79:2097-2103.
    • (2012) Neurology , vol.79 , pp. 2097-2103
    • Cloarec, R.1    Bruneau, N.2    Rudolf, G.3
  • 2
    • 84871327554 scopus 로고    scopus 로고
    • Prrt2 mutation causes benign familial infantile convulsions
    • de Vries B, Callenbach PMC, Kamphorst JT, et al. PRRT2 mutation causes benign familial infantile convulsions. Neurology 2012;79:2154-2155.
    • (2012) Neurology , vol.79 , pp. 2154-2155
    • De Vries, B.1    Callenbach, P.M.C.2    Kamphorst, J.T.3
  • 3
    • 84866437494 scopus 로고    scopus 로고
    • Prrt2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
    • Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012;79:2115-2121.
    • (2012) Neurology , vol.79 , pp. 2115-2121
    • Gardiner, A.R.1    Bhatia, K.P.2    Stamelou, M.3
  • 4
    • 84871270731 scopus 로고    scopus 로고
    • Prrt2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
    • Marini C, Conti V, Mei D, et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology 2012;79:2109-2114.
    • (2012) Neurology , vol.79 , pp. 2109-2114
    • Marini, C.1    Conti, V.2    Mei, D.3
  • 5
    • 84871292496 scopus 로고    scopus 로고
    • Prrt2 mutations cause hemiplegic migraine
    • Riant F, Roze E, Barbance C, et al. PRRT2 mutations cause hemiplegic migraine. Neurology 2012;79:2122-2124.
    • (2012) Neurology , vol.79 , pp. 2122-2124
    • Riant, F.1    Roze, E.2    Barbance, C.3
  • 6
    • 84871280770 scopus 로고    scopus 로고
    • Prrt2 phenotypic spectrum includes sporadic and fever-related infantile seizures
    • Scheffer IE, Grinton BE, Heron SE, et al. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology 2012;79:2104-2108.
    • (2012) Neurology , vol.79 , pp. 2104-2108
    • Scheffer, I.E.1    Grinton, B.E.2    Heron, S.E.3
  • 7
    • 0001632253 scopus 로고
    • Epilepsy maquerading as a movement disorder
    • In: Marsden CD, Fahn S, eds. Oxford, UK: Butterworth-Heinemann
    • Fish DR,Marsden CD. Epilepsy maquerading as a movement disorder. In: Marsden CD, Fahn S, eds. Movement Disorders 3. Oxford, UK: Butterworth- Heinemann; 1994:346-358.
    • (1994) Movement Disorders , vol.3 , pp. 346-358
    • Fish, D.R.1    Marsden, C.D.2
  • 8
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to pericentromeric region of human chromosome 16
    • Szepetowski P, Rochette J, Berquin J, et al. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-898.
    • (1997) Am J Hum Genet , vol.61 , pp. 889-898
    • Szepetowski, P.1    Rochette, J.2    Berquin, J.3
  • 9
    • 82255186531 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in prrt2 that cause paroxysmal kinesigenic dyskinesia
    • Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011;43:1252-1255.
    • (2011) Nat Genet , vol.43 , pp. 1252-1255
    • Chen, W.J.1    Lin, Y.2    Xiong, Z.Q.3
  • 10
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the gene prrt2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • Lee HY, Bruneau N, Roll P, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Reports 2012;1:1-11.
    • (2012) Cell Reports , vol.1 , pp. 1-11
    • Lee, H.Y.1    Bruneau, N.2    Roll, P.3
  • 11
    • 39749203582 scopus 로고    scopus 로고
    • Epilepsy as part of the phenotype associated with atp1a2 mutations
    • Deprez L, Weckhuysen S, Peeters K, et al. Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia 2008;49:500-508.
    • (2008) Epilepsia , vol.49 , pp. 500-508
    • Deprez, L.1    Weckhuysen, S.2    Peeters, K.3
  • 12
    • 77957280532 scopus 로고    scopus 로고
    • De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine
    • Riant F, Ducros A, Ploton C, et al. De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. Neurology 2010;75:967-972.
    • (2010) Neurology , vol.75 , pp. 967-972
    • Riant, F.1    Ducros, A.2    Ploton, C.3
  • 13
    • 32044460644 scopus 로고    scopus 로고
    • Severe episodic neurological deficits and permanent mental retardation in a child with a novel fhm2 atp1a2 mutation
    • Vanmolkot KRJ, Stroink H, Koenderink JB, et al. Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Ann Neurol 2006;59:310-314.
    • (2006) Ann Neurol , vol.59 , pp. 310-314
    • Vanmolkot, K.R.J.1    Stroink, H.2    Koenderink, J.B.3
  • 14
    • 77957896478 scopus 로고    scopus 로고
    • Episodic neurological channelopathies
    • Ryan DP, Ptácek LJ. Episodic neurological channelopathies. Neuron. 2010;68:282-292.
    • (2010) Neuron , vol.68 , pp. 282-292
    • Ryan, D.P.1    Ptácek, L.J.2
  • 15
    • 79959667218 scopus 로고    scopus 로고
    • Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy
    • Klassen T, Davis C, Goldman A, et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 2011;145:1036-1048.
    • (2011) Cell , vol.145 , pp. 1036-1048
    • Klassen, T.1    Davis, C.2    Goldman, A.3
  • 16
    • 18544364797 scopus 로고    scopus 로고
    • Mutation of gabra1 in an autosomal dominant form of juvenile myoclonic epilepsy
    • Cossette P, Liu L, Brisebois K, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31:184-189.
    • (2002) Nat Genet , vol.31 , pp. 184-189
    • Cossette, P.1    Liu, L.2    Brisebois, K.3
  • 17
    • 61449230751 scopus 로고    scopus 로고
    • Sporadic infantile epileptic encephalopathy caused by mutations in pcdh19 resembles dravet syndrome but mainly affects females
    • Depienne C, Bouteiller D, Keren B, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009;5:e1000381.
    • (2009) PLoS Genet , vol.5
    • Depienne, C.1    Bouteiller, D.2    Keren, B.3
  • 18
    • 25144498379 scopus 로고    scopus 로고
    • A human proteinprotein interaction network: A resource for annotating the proteome
    • Stelzl U, Worm U, Lalowski M, et al. A human proteinprotein interaction network: a resource for annotating the proteome. Cell 2005;122:957-968.
    • (2005) Cell , vol.122 , pp. 957-968
    • Stelzl, U.1    Worm, U.2    Lalowski, M.3
  • 19
    • 16244412642 scopus 로고    scopus 로고
    • Masters or slaves? Vesicle release machinery and the regulation of presynaptic calcium channels
    • Jarvis SE, Zamponi GW. Masters or slaves? Vesicle release machinery and the regulation of presynaptic calcium channels. Cell Calcium 2005;37:483-488.
    • (2005) Cell Calcium , vol.37 , pp. 483-488
    • Jarvis, S.E.1    Zamponi, G.W.2
  • 20
    • 77956466889 scopus 로고    scopus 로고
    • Cav2.1 (p/q channel) interaction with synaptic proteins is essential for depolarization-evoked release
    • Cohen-Kutner M, Nachmanni D, Atlas D. CaV2.1 (P/Q channel) interaction with synaptic proteins is essential for depolarization-evoked release. Channels 2010; 4:266-277.
    • (2010) Channels , vol.4 , pp. 266-277
    • Cohen-Kutner, M.1    Nachmanni, D.2    Atlas, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.