메뉴 건너뛰기




Volumn 30, Issue 4, 2010, Pages 911-929

Advances on the Genetics of Mendelian Idiopathic Epilepsies

Author keywords

Epilepsy; Febrile seizures; Genes; Idiopathic; Loci

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA1; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; NICOTINIC RECEPTOR ALPHA4; NICOTINIC RECEPTOR BETA2; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNQ3; RETIGABINE; SCN1B PROTEIN; SODIUM CHANNEL; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; UNCLASSIFIED DRUG;

EID: 77956544846     PISSN: 02722712     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cll.2010.07.008     Document Type: Review
Times cited : (17)

References (117)
  • 1
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein O.K., Mulley J.C., Propping P., et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995, 11:201-203.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3
  • 2
    • 18544376557 scopus 로고    scopus 로고
    • Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
    • Kalachikov S., Evgrafov O., Ross B., et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 2002, 30:335-341.
    • (2002) Nat Genet , vol.30 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3
  • 3
    • 18344363561 scopus 로고    scopus 로고
    • Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
    • Morante-Redolat J.M., Gorostidi-Pagola A., Piquer-Sirerol S., et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 2002, 11:1119-1128.
    • (2002) Hum Mol Genet , vol.11 , pp. 1119-1128
    • Morante-Redolat, J.M.1    Gorostidi-Pagola, A.2    Piquer-Sirerol, S.3
  • 4
    • 59649106592 scopus 로고    scopus 로고
    • Genetics of epilepsy syndromes starting in the first year of life
    • Deprez L., Jansen A., De Jonghe P. Genetics of epilepsy syndromes starting in the first year of life. Neurology 2009, 72:273-281.
    • (2009) Neurology , vol.72 , pp. 273-281
    • Deprez, L.1    Jansen, A.2    De Jonghe, P.3
  • 5
    • 17344372328 scopus 로고    scopus 로고
    • A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
    • Singh N.A., Charlier C., Stauffer D., et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998, 18:25-29.
    • (1998) Nat Genet , vol.18 , pp. 25-29
    • Singh, N.A.1    Charlier, C.2    Stauffer, D.3
  • 6
    • 0032536030 scopus 로고    scopus 로고
    • A potassium channel mutation in neonatal human epilepsy
    • Biervert C., Schroeder B.C., Kubisch C., et al. A potassium channel mutation in neonatal human epilepsy. Science 1998, 279:403-406.
    • (1998) Science , vol.279 , pp. 403-406
    • Biervert, C.1    Schroeder, B.C.2    Kubisch, C.3
  • 7
    • 0031974209 scopus 로고    scopus 로고
    • A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
    • Charlier C., Singh N.A., Ryan S.G., et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998, 18:53-55.
    • (1998) Nat Genet , vol.18 , pp. 53-55
    • Charlier, C.1    Singh, N.A.2    Ryan, S.G.3
  • 8
    • 53049091850 scopus 로고    scopus 로고
    • Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations
    • Soldovieri M.V., Miceli F., Bellini G., et al. Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations. Channels (Austin) 2007, 1:228-233.
    • (2007) Channels (Austin) , vol.1 , pp. 228-233
    • Soldovieri, M.V.1    Miceli, F.2    Bellini, G.3
  • 9
    • 10444290761 scopus 로고    scopus 로고
    • De novo KCNQ2 mutations in patients with benign neonatal seizures
    • Claes L.R., Ceulemans B., Audenaert D., et al. De novo KCNQ2 mutations in patients with benign neonatal seizures. Neurology 2004, 63:2155-2158.
    • (2004) Neurology , vol.63 , pp. 2155-2158
    • Claes, L.R.1    Ceulemans, B.2    Audenaert, D.3
  • 10
    • 57349142529 scopus 로고    scopus 로고
    • A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions
    • Ishii A., Fukuma G., Uehara A., et al. A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. Brain Dev 2009, 31:27-33.
    • (2009) Brain Dev , vol.31 , pp. 27-33
    • Ishii, A.1    Fukuma, G.2    Uehara, A.3
  • 11
    • 0344012023 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum
    • Singh N.A., Westenskow P., Charlier C., et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003, 126:2726-2737.
    • (2003) Brain , vol.126 , pp. 2726-2737
    • Singh, N.A.1    Westenskow, P.2    Charlier, C.3
  • 12
    • 34249803830 scopus 로고    scopus 로고
    • SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum
    • Herlenius E., Heron S.E., Grinton B.E., et al. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia 2007, 48:1138-1142.
    • (2007) Epilepsia , vol.48 , pp. 1138-1142
    • Herlenius, E.1    Heron, S.E.2    Grinton, B.E.3
  • 13
    • 12144285702 scopus 로고    scopus 로고
    • Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy
    • Berkovic S.F., Heron S.E., Giordano L., et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol 2004, 55:550-557.
    • (2004) Ann Neurol , vol.55 , pp. 550-557
    • Berkovic, S.F.1    Heron, S.E.2    Giordano, L.3
  • 14
    • 0037077834 scopus 로고    scopus 로고
    • Sodium-channel defects in benign familial neonatal-infantile seizures
    • Heron S.E., Crossland K.M., Andermann E., et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002, 360:851-852.
    • (2002) Lancet , vol.360 , pp. 851-852
    • Heron, S.E.1    Crossland, K.M.2    Andermann, E.3
  • 15
    • 77951889844 scopus 로고    scopus 로고
    • Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
    • Liao Y., Deprez L., Maljevic S., et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 2010, 133:1403-1414.
    • (2010) Brain , vol.133 , pp. 1403-1414
    • Liao, Y.1    Deprez, L.2    Maljevic, S.3
  • 16
    • 1642288777 scopus 로고    scopus 로고
    • Idiopathic and/or benign localization-related epilepsies in infants and young children
    • John Libbey, Eastleigh (UK), Chapter 12, J. Roger, M. Bureau, C. Dravet (Eds.)
    • Vigevano F., Bureau M. Idiopathic and/or benign localization-related epilepsies in infants and young children. Epileptic syndromes in infancy, childhood and adolescence 2002, 171-179. John Libbey, Eastleigh (UK), Chapter 12. 3rd edition. J. Roger, M. Bureau, C. Dravet (Eds.).
    • (2002) Epileptic syndromes in infancy, childhood and adolescence , pp. 171-179
    • Vigevano, F.1    Bureau, M.2
  • 17
    • 8044248429 scopus 로고    scopus 로고
    • Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q
    • Guipponi M., Rivier F., Vigevano F., et al. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997, 6:473-477.
    • (1997) Hum Mol Genet , vol.6 , pp. 473-477
    • Guipponi, M.1    Rivier, F.2    Vigevano, F.3
  • 18
    • 0035097981 scopus 로고    scopus 로고
    • Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
    • Caraballo R., Pavek S., Lemainque A., et al. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet 2001, 68:788-794.
    • (2001) Am J Hum Genet , vol.68 , pp. 788-794
    • Caraballo, R.1    Pavek, S.2    Lemainque, A.3
  • 19
    • 18344384060 scopus 로고    scopus 로고
    • Refinement of the chromosome 16 locus for benign familial infantile convulsions
    • Callenbach P.M., van den Boogerd E.H., de Coo R.F., et al. Refinement of the chromosome 16 locus for benign familial infantile convulsions. Clin Genet 2005, 67:517-525.
    • (2005) Clin Genet , vol.67 , pp. 517-525
    • Callenbach, P.M.1    van den Boogerd, E.H.2    de Coo, R.F.3
  • 20
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
    • Szepetowski P., Rochette J., Berquin P., et al. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the 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, P.3
  • 21
    • 0027979943 scopus 로고
    • The prevalence and incidence of convulsive disorders in children
    • Hauser W.A. The prevalence and incidence of convulsive disorders in children. Epilepsia 1994, 35(Suppl 2):S1-S6.
    • (1994) Epilepsia , vol.35 , Issue.SUPPL 2
    • Hauser, W.A.1
  • 22
    • 0021324327 scopus 로고
    • Epidemiology of febrile and afebrile convulsions in children in Japan
    • Tsuboi T. Epidemiology of febrile and afebrile convulsions in children in Japan. Neurology 1984, 34:175-181.
    • (1984) Neurology , vol.34 , pp. 175-181
    • Tsuboi, T.1
  • 23
    • 0018341554 scopus 로고
    • The risk of epilepsy following febrile convulsions
    • Annegers J.F., Hauser W.A., Elveback L.R., et al. The risk of epilepsy following febrile convulsions. Neurology 1979, 29:297-303.
    • (1979) Neurology , vol.29 , pp. 297-303
    • Annegers, J.F.1    Hauser, W.A.2    Elveback, L.R.3
  • 24
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
    • Scheffer I.E., Berkovic S.F. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997, 120(Pt 3):479-490.
    • (1997) Brain , vol.120 , Issue.PART 3 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 25
    • 0030044668 scopus 로고    scopus 로고
    • Pedigree analysis in families with febrile seizures
    • Johnson W.G., Kugler S.L., Stenroos E.S., et al. Pedigree analysis in families with febrile seizures. Am J Med Genet 1996, 61:345-352.
    • (1996) Am J Med Genet , vol.61 , pp. 345-352
    • Johnson, W.G.1    Kugler, S.L.2    Stenroos, E.S.3
  • 27
    • 0034069651 scopus 로고    scopus 로고
    • Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • Escayg A., MacDonald B.T., Meisler M.H., et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000, 24:343-345.
    • (2000) Nat Genet , vol.24 , pp. 343-345
    • Escayg, A.1    MacDonald, B.T.2    Meisler, M.H.3
  • 28
    • 0035030766 scopus 로고    scopus 로고
    • First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene
    • Baulac S., Huberfeld G., Gourfinkel-An I., et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001, 28:46-48.
    • (2001) Nat Genet , vol.28 , pp. 46-48
    • Baulac, S.1    Huberfeld, G.2    Gourfinkel-An, I.3
  • 29
    • 64449085161 scopus 로고    scopus 로고
    • Progress in searching for the febrile seizure susceptibility genes
    • Nakayama J. Progress in searching for the febrile seizure susceptibility genes. Brain Dev 2009, 31:359-365.
    • (2009) Brain Dev , vol.31 , pp. 359-365
    • Nakayama, J.1
  • 30
    • 6844240853 scopus 로고    scopus 로고
    • Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
    • Johnson E.W., Dubovsky J., Rich S.S., et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998, 7:63-67.
    • (1998) Hum Mol Genet , vol.7 , pp. 63-67
    • Johnson, E.W.1    Dubovsky, J.2    Rich, S.S.3
  • 31
    • 0032511770 scopus 로고    scopus 로고
    • Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus
    • Kugler S.L., Stenroos E.S., Mandelbaum D.E., et al. Hereditary febrile seizures: phenotype and evidence for a chromosome 19p locus. Am J Med Genet 1998, 79:354-361.
    • (1998) Am J Med Genet , vol.79 , pp. 354-361
    • Kugler, S.L.1    Stenroos, E.S.2    Mandelbaum, D.E.3
  • 32
    • 0036894233 scopus 로고    scopus 로고
    • A locus for simple pure febrile seizures maps to chromosome 6q22-q24
    • Nabbout R., Prud'homme J.F., Herman A., et al. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain 2002, 125:2668-2680.
    • (2002) Brain , vol.125 , pp. 2668-2680
    • Nabbout, R.1    Prud'homme, J.F.2    Herman, A.3
  • 33
    • 0029881889 scopus 로고    scopus 로고
    • Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
    • Wallace R.H., Berkovic S.F., Howell R.A., et al. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996, 33:308-312.
    • (1996) J Med Genet , vol.33 , pp. 308-312
    • Wallace, R.H.1    Berkovic, S.F.2    Howell, R.A.3
  • 34
    • 0032834017 scopus 로고    scopus 로고
    • A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
    • Peiffer A., Thompson J., Charlier C., et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol 1999, 46:671-678.
    • (1999) Ann Neurol , vol.46 , pp. 671-678
    • Peiffer, A.1    Thompson, J.2    Charlier, C.3
  • 35
    • 70349668995 scopus 로고    scopus 로고
    • A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome
    • Singh N.A., Pappas C., Dahle E.J., et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS Genet 2009, 5:e1000649.
    • (2009) PLoS Genet , vol.5
    • Singh, N.A.1    Pappas, C.2    Dahle, E.J.3
  • 36
    • 33749684849 scopus 로고    scopus 로고
    • Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22
    • Hedera P., Ma S., Blair M.A., et al. Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22. Epilepsia 2006, 47:1622-1628.
    • (2006) Epilepsia , vol.47 , pp. 1622-1628
    • Hedera, P.1    Ma, S.2    Blair, M.A.3
  • 37
    • 34247539428 scopus 로고    scopus 로고
    • New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
    • Nabbout R., Baulac S., Desguerre I., et al. New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p. Neurology 2007, 68:1374-1381.
    • (2007) Neurology , vol.68 , pp. 1374-1381
    • Nabbout, R.1    Baulac, S.2    Desguerre, I.3
  • 38
    • 8844220357 scopus 로고    scopus 로고
    • Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18
    • Nakayama J., Yamamoto N., Hamano K., et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology 2004, 63:1803-1807.
    • (2004) Neurology , vol.63 , pp. 1803-1807
    • Nakayama, J.1    Yamamoto, N.2    Hamano, K.3
  • 39
    • 55749108511 scopus 로고    scopus 로고
    • A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33
    • Dai X.H., Chen W.W., Wang X., et al. A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33. Hum Genet 2008, 124:423-429.
    • (2008) Hum Genet , vol.124 , pp. 423-429
    • Dai, X.H.1    Chen, W.W.2    Wang, X.3
  • 40
    • 0032953159 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome
    • Singh R., Scheffer I.E., Crossland K., et al. Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. Ann Neurol 1999, 45:75-81.
    • (1999) Ann Neurol , vol.45 , pp. 75-81
    • Singh, R.1    Scheffer, I.E.2    Crossland, K.3
  • 41
    • 57449112489 scopus 로고    scopus 로고
    • Lippincott, Williams & Wilkins, Philadelphia, J.J. Engel, T.A. Pedley (Eds.)
    • Scheffer I. Epilepsy: a comprehensive textbook 2008, 2553-2558. Lippincott, Williams & Wilkins, Philadelphia. J.J. Engel, T.A. Pedley (Eds.).
    • (2008) Epilepsy: a comprehensive textbook , pp. 2553-2558
    • Scheffer, I.1
  • 42
    • 0037076493 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B
    • Wallace R.H., Scheffer I.E., Parasivam G., et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 2002, 58:1426-1429.
    • (2002) Neurology , vol.58 , pp. 1426-1429
    • Wallace, R.H.1    Scheffer, I.E.2    Parasivam, G.3
  • 43
    • 33845887196 scopus 로고    scopus 로고
    • Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
    • Scheffer I.E., Harkin L.A., Grinton B.E., et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007, 130:100-109.
    • (2007) Brain , vol.130 , pp. 100-109
    • Scheffer, I.E.1    Harkin, L.A.2    Grinton, B.E.3
  • 44
    • 0037115031 scopus 로고    scopus 로고
    • Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
    • Meadows L.S., Malhotra J., Loukas A., et al. Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. J Neurosci 2002, 22:10699-10709.
    • (2002) J Neurosci , vol.22 , pp. 10699-10709
    • Meadows, L.S.1    Malhotra, J.2    Loukas, A.3
  • 45
    • 0141653010 scopus 로고    scopus 로고
    • A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
    • Audenaert D., Claes L., Ceulemans B., et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003, 61:854-856.
    • (2003) Neurology , vol.61 , pp. 854-856
    • Audenaert, D.1    Claes, L.2    Ceulemans, B.3
  • 46
    • 0033364824 scopus 로고    scopus 로고
    • A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
    • Baulac S., Gourfinkel-An I., Picard F., et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet 1999, 65:1078-1085.
    • (1999) Am J Hum Genet , vol.65 , pp. 1078-1085
    • Baulac, S.1    Gourfinkel-An, I.2    Picard, F.3
  • 47
    • 0033361895 scopus 로고    scopus 로고
    • Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33
    • Moulard B., Guipponi M., Chaigne D., et al. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am J Hum Genet 1999, 65:1396-1400.
    • (1999) Am J Hum Genet , vol.65 , pp. 1396-1400
    • Moulard, B.1    Guipponi, M.2    Chaigne, D.3
  • 48
    • 58249130592 scopus 로고    scopus 로고
    • A catalog of SCN1A variants
    • Lossin C. A catalog of SCN1A variants. Brain Dev 2009, 31:114-130.
    • (2009) Brain Dev , vol.31 , pp. 114-130
    • Lossin, C.1
  • 49
    • 0034987073 scopus 로고    scopus 로고
    • De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
    • Claes L., Del-Favero J., Ceulemans B., et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001, 68:1327-1332.
    • (2001) Am J Hum Genet , vol.68 , pp. 1327-1332
    • Claes, L.1    Del-Favero, J.2    Ceulemans, B.3
  • 50
    • 16544389829 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy in infancy: Dravet syndrome
    • Dravet C., Bureau M., Oguni H., et al. Severe myoclonic epilepsy in infancy: Dravet syndrome. Adv Neurol 2005, 95:71-102.
    • (2005) Adv Neurol , vol.95 , pp. 71-102
    • Dravet, C.1    Bureau, M.2    Oguni, H.3
  • 51
    • 62149088190 scopus 로고    scopus 로고
    • Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
    • Depienne C., Trouillard O., Saint-Martin C., et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet 2009, 46:183-191.
    • (2009) J Med Genet , vol.46 , pp. 183-191
    • Depienne, C.1    Trouillard, O.2    Saint-Martin, C.3
  • 52
    • 33749675112 scopus 로고    scopus 로고
    • Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
    • Depienne C., Arzimanoglou A., Trouillard O., et al. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat 2006, 27:389.
    • (2006) Hum Mutat , vol.27 , pp. 389
    • Depienne, C.1    Arzimanoglou, A.2    Trouillard, O.3
  • 53
    • 33749661352 scopus 로고    scopus 로고
    • Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy
    • Marini C., Mei D., Helen Cross J., et al. Mosaic SCN1A mutation in familial severe myoclonic epilepsy of infancy. Epilepsia 2006, 47:1737-1740.
    • (2006) Epilepsia , vol.47 , pp. 1737-1740
    • Marini, C.1    Mei, D.2    Helen Cross, J.3
  • 54
    • 33749678419 scopus 로고    scopus 로고
    • SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy
    • Morimoto M., Mazaki E., Nishimura A., et al. SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy. Epilepsia 2006, 47:1732-1736.
    • (2006) Epilepsia , vol.47 , pp. 1732-1736
    • Morimoto, M.1    Mazaki, E.2    Nishimura, A.3
  • 55
    • 31444454192 scopus 로고    scopus 로고
    • Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy
    • Gennaro E., Santorelli F.M., Bertini E., et al. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun 2006, 341:489-493.
    • (2006) Biochem Biophys Res Commun , vol.341 , pp. 489-493
    • Gennaro, E.1    Santorelli, F.M.2    Bertini, E.3
  • 56
    • 0035033520 scopus 로고    scopus 로고
    • Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures
    • Wallace R.H., Marini C., Petrou S., et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001, 28:49-52.
    • (2001) Nat Genet , vol.28 , pp. 49-52
    • Wallace, R.H.1    Marini, C.2    Petrou, S.3
  • 57
    • 0036155260 scopus 로고    scopus 로고
    • Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus
    • Harkin L.A., Bowser D.N., Dibbens L.M., et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 2002, 70:530-536.
    • (2002) Am J Hum Genet , vol.70 , pp. 530-536
    • Harkin, L.A.1    Bowser, D.N.2    Dibbens, L.M.3
  • 58
    • 0036318060 scopus 로고    scopus 로고
    • A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions
    • Kananura C., Haug K., Sander T., et al. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol 2002, 59:1137-1141.
    • (2002) Arch Neurol , vol.59 , pp. 1137-1141
    • Kananura, C.1    Haug, K.2    Sander, T.3
  • 59
    • 33747707462 scopus 로고    scopus 로고
    • A novel GABRG2 mutation associated with febrile seizures
    • Audenaert D., Schwartz E., Claeys K.G., et al. A novel GABRG2 mutation associated with febrile seizures. Neurology 2006, 67:687-690.
    • (2006) Neurology , vol.67 , pp. 687-690
    • Audenaert, D.1    Schwartz, E.2    Claeys, K.G.3
  • 60
    • 27744572977 scopus 로고    scopus 로고
    • A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus
    • Audenaert D., Claes L., Claeys K.G., et al. A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus. J Med Genet 2005, 42:947-952.
    • (2005) J Med Genet , vol.42 , pp. 947-952
    • Audenaert, D.1    Claes, L.2    Claeys, K.G.3
  • 61
    • 47649099170 scopus 로고    scopus 로고
    • A novel locus for generalized epilepsy with febrile seizures plus in French families
    • Baulac S., Gourfinkel-An I., Couarch P., et al. A novel locus for generalized epilepsy with febrile seizures plus in French families. Arch Neurol 2008, 65:943-951.
    • (2008) Arch Neurol , vol.65 , pp. 943-951
    • Baulac, S.1    Gourfinkel-An, I.2    Couarch, P.3
  • 62
    • 72249101491 scopus 로고    scopus 로고
    • Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+
    • Poduri A., Wang Y., Gordon D., et al. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. Neurology 2009, 73:1264-1272.
    • (2009) Neurology , vol.73 , pp. 1264-1272
    • Poduri, A.1    Wang, Y.2    Gordon, D.3
  • 64
    • 63849162353 scopus 로고    scopus 로고
    • Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
    • Sijben A.E., Sithinamsuwan P., Radhakrishnan A., et al. Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?. Epilepsia 2009, 50:953-956.
    • (2009) Epilepsia , vol.50 , pp. 953-956
    • Sijben, A.E.1    Sithinamsuwan, P.2    Radhakrishnan, A.3
  • 65
    • 0028011992 scopus 로고
    • Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
    • Scheffer I.E., Bhatia K.P., Lopes-Cendes I., et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994, 343:515-517.
    • (1994) Lancet , vol.343 , pp. 515-517
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3
  • 66
    • 0028900303 scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
    • Scheffer I.E., Bhatia K.P., Lopes-Cendes I., et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995, 118(Pt 1):61-73.
    • (1995) Brain , vol.118 , Issue.PART 1 , pp. 61-73
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3
  • 67
    • 34548688700 scopus 로고    scopus 로고
    • The role of the nicotinic acetylcholine receptors in sleep-related epilepsy
    • Marini C., Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol 2007, 74:1308-1314.
    • (2007) Biochem Pharmacol , vol.74 , pp. 1308-1314
    • Marini, C.1    Guerrini, R.2
  • 68
    • 0033854176 scopus 로고    scopus 로고
    • A de novo mutation in sporadic nocturnal frontal lobe epilepsy
    • Phillips H.A., Marini C., Scheffer I.E., et al. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 2000, 48:264-267.
    • (2000) Ann Neurol , vol.48 , pp. 264-267
    • Phillips, H.A.1    Marini, C.2    Scheffer, I.E.3
  • 69
    • 58849120436 scopus 로고    scopus 로고
    • A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy
    • Chen Y., Wu L., Fang Y., et al. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. Epilepsy Res 2009, 83:152-156.
    • (2009) Epilepsy Res , vol.83 , pp. 152-156
    • Chen, Y.1    Wu, L.2    Fang, Y.3
  • 70
    • 0033763090 scopus 로고    scopus 로고
    • The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
    • De Fusco M., Becchetti A., Patrignani A., et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000, 26:275-276.
    • (2000) Nat Genet , vol.26 , pp. 275-276
    • De Fusco, M.1    Becchetti, A.2    Patrignani, A.3
  • 71
    • 0035163074 scopus 로고    scopus 로고
    • CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Phillips H.A., Favre I., Kirkpatrick M., et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001, 68:225-231.
    • (2001) Am J Hum Genet , vol.68 , pp. 225-231
    • Phillips, H.A.1    Favre, I.2    Kirkpatrick, M.3
  • 72
    • 39749140434 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene
    • Diaz-Otero F., Quesada M., Morales-Corraliza J., et al. Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. Epilepsia 2008, 49:516-520.
    • (2008) Epilepsia , vol.49 , pp. 516-520
    • Diaz-Otero, F.1    Quesada, M.2    Morales-Corraliza, J.3
  • 73
    • 45649084677 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor
    • Cho Y.W., Yi S.D., Lim J.G., et al. Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. Epilepsy Behav 2008, 13:361-365.
    • (2008) Epilepsy Behav , vol.13 , pp. 361-365
    • Cho, Y.W.1    Yi, S.D.2    Lim, J.G.3
  • 74
    • 33746578967 scopus 로고    scopus 로고
    • Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
    • Aridon P., Marini C., Di Resta C., et al. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 2006, 79:342-350.
    • (2006) Am J Hum Genet , vol.79 , pp. 342-350
    • Aridon, P.1    Marini, C.2    Di Resta, C.3
  • 75
    • 34447501807 scopus 로고    scopus 로고
    • A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely
    • Gu W., Bertrand D., Steinlein O.K. A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. Neurosci Lett 2007, 422:74-76.
    • (2007) Neurosci Lett , vol.422 , pp. 74-76
    • Gu, W.1    Bertrand, D.2    Steinlein, O.K.3
  • 76
    • 58149330464 scopus 로고    scopus 로고
    • CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients
    • Combi R., Ferini-Strambi L., Tenchini M.L. CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients. Sleep Med 2009, 10:139-142.
    • (2009) Sleep Med , vol.10 , pp. 139-142
    • Combi, R.1    Ferini-Strambi, L.2    Tenchini, M.L.3
  • 77
    • 33947198192 scopus 로고    scopus 로고
    • Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy
    • De Marco E.V., Gambardella A., Annesi F., et al. Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Res 2007, 74:70-73.
    • (2007) Epilepsy Res , vol.74 , pp. 70-73
    • De Marco, E.V.1    Gambardella, A.2    Annesi, F.3
  • 78
    • 0032231423 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
    • Phillips H.A., Scheffer I.E., Crossland K.M., et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998, 63:1108-1116.
    • (1998) Am J Hum Genet , vol.63 , pp. 1108-1116
    • Phillips, H.A.1    Scheffer, I.E.2    Crossland, K.M.3
  • 79
    • 0034647382 scopus 로고    scopus 로고
    • Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE
    • Bonati M.T., Asselta R., Duga S., et al. Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE. Neuroreport 2000, 11:2097-2101.
    • (2000) Neuroreport , vol.11 , pp. 2097-2101
    • Bonati, M.T.1    Asselta, R.2    Duga, S.3
  • 80
    • 0034643891 scopus 로고    scopus 로고
    • Autosomal dominant partial epilepsy with auditory features: defining the phenotype
    • Winawer M.R., Ottman R., Hauser W.A., et al. Autosomal dominant partial epilepsy with auditory features: defining the phenotype. Neurology 2000, 54:2173-2176.
    • (2000) Neurology , vol.54 , pp. 2173-2176
    • Winawer, M.R.1    Ottman, R.2    Hauser, W.A.3
  • 81
    • 0029059069 scopus 로고
    • Localization of a gene for partial epilepsy to chromosome 10q
    • Ottman R., Risch N., Hauser W.A., et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995, 10:56-60.
    • (1995) Nat Genet , vol.10 , pp. 56-60
    • Ottman, R.1    Risch, N.2    Hauser, W.A.3
  • 82
    • 63749094521 scopus 로고    scopus 로고
    • LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy
    • Nobile C., Michelucci R., Andreazza S., et al. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum Mutat 2009, 30:530-536.
    • (2009) Hum Mutat , vol.30 , pp. 530-536
    • Nobile, C.1    Michelucci, R.2    Andreazza, S.3
  • 83
    • 33846994397 scopus 로고    scopus 로고
    • Two novel epilepsy-linked mutations leading to a loss of function of LGI1
    • Chabrol E., Popescu C., Gourfinkel-An I., et al. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch Neurol 2007, 64:217-222.
    • (2007) Arch Neurol , vol.64 , pp. 217-222
    • Chabrol, E.1    Popescu, C.2    Gourfinkel-An, I.3
  • 84
    • 47549096259 scopus 로고    scopus 로고
    • A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy
    • Striano P., de Falco A., Diani E., et al. A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy. Arch Neurol 2008, 65:939-942.
    • (2008) Arch Neurol , vol.65 , pp. 939-942
    • Striano, P.1    de Falco, A.2    Diani, E.3
  • 85
    • 33751355664 scopus 로고    scopus 로고
    • The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface
    • Sirerol-Piquer M.S., Ayerdi-Izquierdo A., Morante-Redolat J.M., et al. The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. Hum Mol Genet 2006, 15:3436-3445.
    • (2006) Hum Mol Genet , vol.15 , pp. 3436-3445
    • Sirerol-Piquer, M.S.1    Ayerdi-Izquierdo, A.2    Morante-Redolat, J.M.3
  • 86
    • 21244505337 scopus 로고    scopus 로고
    • ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy
    • Senechal K.R., Thaller C., Noebels J.L. ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. Hum Mol Genet 2005, 14:1613-1620.
    • (2005) Hum Mol Genet , vol.14 , pp. 1613-1620
    • Senechal, K.R.1    Thaller, C.2    Noebels, J.L.3
  • 87
    • 67349253825 scopus 로고    scopus 로고
    • A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes
    • de Bellescize J., Boutry N., Chabrol E., et al. A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes. Epilepsy Res 2009, 85:118-122.
    • (2009) Epilepsy Res , vol.85 , pp. 118-122
    • de Bellescize, J.1    Boutry, N.2    Chabrol, E.3
  • 88
    • 0036709964 scopus 로고    scopus 로고
    • The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders
    • Staub E., Perez-Tur J., Siebert R., et al. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Trends Biochem Sci 2002, 27:441-444.
    • (2002) Trends Biochem Sci , vol.27 , pp. 441-444
    • Staub, E.1    Perez-Tur, J.2    Siebert, R.3
  • 89
    • 34547092145 scopus 로고    scopus 로고
    • Defining the expression pattern of the LGI1 gene in BAC transgenic mice
    • Head K., Gong S., Joseph S., et al. Defining the expression pattern of the LGI1 gene in BAC transgenic mice. Mamm Genome 2007, 18:328-337.
    • (2007) Mamm Genome , vol.18 , pp. 328-337
    • Head, K.1    Gong, S.2    Joseph, S.3
  • 90
    • 0032481137 scopus 로고    scopus 로고
    • A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors
    • Chernova O.B., Somerville R.P., Cowell J.K. A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors. Oncogene 1998, 17:2873-2881.
    • (1998) Oncogene , vol.17 , pp. 2873-2881
    • Chernova, O.B.1    Somerville, R.P.2    Cowell, J.K.3
  • 91
    • 33344456574 scopus 로고    scopus 로고
    • The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1
    • Schulte U., Thumfart J.O., Klocker N., et al. The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. Neuron 2006, 49:697-706.
    • (2006) Neuron , vol.49 , pp. 697-706
    • Schulte, U.1    Thumfart, J.O.2    Klocker, N.3
  • 92
    • 33749038646 scopus 로고    scopus 로고
    • Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission
    • Fukata Y., Adesnik H., Iwanaga T., et al. Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. Science 2006, 313:1792-1795.
    • (2006) Science , vol.313 , pp. 1792-1795
    • Fukata, Y.1    Adesnik, H.2    Iwanaga, T.3
  • 93
    • 77649259534 scopus 로고    scopus 로고
    • Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy
    • Fukata Y., Lovero K.L., Iwanaga T., et al. Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. Proc Natl Acad Sci U S A 2010, 107:3799-3804.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 3799-3804
    • Fukata, Y.1    Lovero, K.L.2    Iwanaga, T.3
  • 94
    • 77952477811 scopus 로고    scopus 로고
    • Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability
    • Yu Y.E., Wen L., Silva J., et al. Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability. Hum Mol Genet 2010, 19:1702-1711.
    • (2010) Hum Mol Genet , vol.19 , pp. 1702-1711
    • Yu, Y.E.1    Wen, L.2    Silva, J.3
  • 95
    • 77956553090 scopus 로고    scopus 로고
    • Electro-clinical characterization of epileptic seizures in LGI1-deficient mice
    • [Epub ahead of print]
    • Chabrol E., Navarro V., Provenzano G., et al. Electro-clinical characterization of epileptic seizures in LGI1-deficient mice. Brain 2010, [Epub ahead of print].
    • (2010) Brain
    • Chabrol, E.1    Navarro, V.2    Provenzano, G.3
  • 96
    • 0029834204 scopus 로고    scopus 로고
    • Familial temporal lobe epilepsy: a common disorder identified in twins
    • Berkovic S.F., McIntosh A., Howell R.A., et al. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol 1996, 40:227-235.
    • (1996) Ann Neurol , vol.40 , pp. 227-235
    • Berkovic, S.F.1    McIntosh, A.2    Howell, R.A.3
  • 97
    • 0034985911 scopus 로고    scopus 로고
    • Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
    • Baulac S., Picard F., Herman A., et al. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 2001, 49:786-792.
    • (2001) Ann Neurol , vol.49 , pp. 786-792
    • Baulac, S.1    Picard, F.2    Herman, A.3
  • 98
    • 4444324827 scopus 로고    scopus 로고
    • Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures
    • Claes L., Audenaert D., Deprez L., et al. Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 2004, 41:710-714.
    • (2004) J Med Genet , vol.41 , pp. 710-714
    • Claes, L.1    Audenaert, D.2    Deprez, L.3
  • 99
    • 34250328603 scopus 로고    scopus 로고
    • Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3
    • Hedera P., Blair M.A., Andermann E., et al. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3. Neurology 2007, 68:2107-2112.
    • (2007) Neurology , vol.68 , pp. 2107-2112
    • Hedera, P.1    Blair, M.A.2    Andermann, E.3
  • 100
    • 38549165366 scopus 로고    scopus 로고
    • Familial mesial temporal lobe epilepsy (FMTLE): a clinical and genetic study of 15 Italian families
    • Striano P., Gambardella A., Coppola A., et al. Familial mesial temporal lobe epilepsy (FMTLE): a clinical and genetic study of 15 Italian families. J Neurol 2008, 255:16-23.
    • (2008) J Neurol , vol.255 , pp. 16-23
    • Striano, P.1    Gambardella, A.2    Coppola, A.3
  • 101
    • 0031767813 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2
    • Scheffer I.E., Phillips H.A., O'Brien C.E., et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998, 44:890-899.
    • (1998) Ann Neurol , vol.44 , pp. 890-899
    • Scheffer, I.E.1    Phillips, H.A.2    O'Brien, C.E.3
  • 102
    • 0033362028 scopus 로고    scopus 로고
    • Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
    • Xiong L., Labuda M., Li D.S., et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet 1999, 65:1698-1710.
    • (1999) Am J Hum Genet , vol.65 , pp. 1698-1710
    • Xiong, L.1    Labuda, M.2    Li, D.S.3
  • 103
    • 0142104303 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q
    • Callenbach P.M., van den Maagdenberg A.M., Hottenga J.J., et al. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia 2003, 44:1298-1305.
    • (2003) Epilepsia , vol.44 , pp. 1298-1305
    • Callenbach, P.M.1    van den Maagdenberg, A.M.2    Hottenga, J.J.3
  • 104
    • 4544255725 scopus 로고    scopus 로고
    • Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12
    • Berkovic S.F., Serratosa J.M., Phillips H.A., et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 2004, 45:1054-1060.
    • (2004) Epilepsia , vol.45 , pp. 1054-1060
    • Berkovic, S.F.1    Serratosa, J.M.2    Phillips, H.A.3
  • 105
    • 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
  • 106
    • 33748776285 scopus 로고    scopus 로고
    • Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
    • Ma S., Blair M.A., Abou-Khalil B., et al. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Epilepsy Res 2006, 71:129-134.
    • (2006) Epilepsy Res , vol.71 , pp. 129-134
    • Ma, S.1    Blair, M.A.2    Abou-Khalil, B.3
  • 107
    • 77955289156 scopus 로고    scopus 로고
    • A locus for juvenile myoclonic epilepsy maps to 2q33-q36
    • Ratnapriya R., Vijai J., Kadandale J.S., et al. A locus for juvenile myoclonic epilepsy maps to 2q33-q36. Hum Genet 2010, 128:123-130.
    • (2010) Hum Genet , vol.128 , pp. 123-130
    • Ratnapriya, R.1    Vijai, J.2    Kadandale, J.S.3
  • 108
    • 0344091562 scopus 로고    scopus 로고
    • Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
    • Haug K., Warnstedt M., Alekov A.K., et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003, 33:527-532.
    • (2003) Nat Genet , vol.33 , pp. 527-532
    • Haug, K.1    Warnstedt, M.2    Alekov, A.K.3
  • 109
    • 3543026306 scopus 로고    scopus 로고
    • Mutations in EFHC1 cause juvenile myoclonic epilepsy
    • Suzuki T., Delgado-Escueta A.V., Aguan K., et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004, 36:842-849.
    • (2004) Nat Genet , vol.36 , pp. 842-849
    • Suzuki, T.1    Delgado-Escueta, A.V.2    Aguan, K.3
  • 110
    • 34547105807 scopus 로고    scopus 로고
    • The state of the art in the genetic analysis of the epilepsies
    • Greenberg D.A., Pal D.K. The state of the art in the genetic analysis of the epilepsies. Curr Neurol Neurosci Rep 2007, 7:320-328.
    • (2007) Curr Neurol Neurosci Rep , vol.7 , pp. 320-328
    • Greenberg, D.A.1    Pal, D.K.2
  • 111
    • 34249791771 scopus 로고    scopus 로고
    • Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
    • Ogiwara I., Miyamoto H., Morita N., et al. Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 2007, 27:5903-5914.
    • (2007) J Neurosci , vol.27 , pp. 5903-5914
    • Ogiwara, I.1    Miyamoto, H.2    Morita, N.3
  • 112
    • 77951555712 scopus 로고    scopus 로고
    • A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats
    • Mashimo T., Ohmori I., Ouchida M., et al. A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats. J Neurosci 2010, 30:5744-5753.
    • (2010) J Neurosci , vol.30 , pp. 5744-5753
    • Mashimo, T.1    Ohmori, I.2    Ouchida, M.3
  • 113
    • 77951248599 scopus 로고    scopus 로고
    • Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities
    • Martin M.S., Dutt K., Papale L.A., et al. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J Biol Chem 2010, 285:9823-9834.
    • (2010) J Biol Chem , vol.285 , pp. 9823-9834
    • Martin, M.S.1    Dutt, K.2    Papale, L.A.3
  • 114
    • 3042798891 scopus 로고    scopus 로고
    • The neurobiology of antiepileptic drugs
    • Rogawski M.A., Loscher W. The neurobiology of antiepileptic drugs. Nat Rev Neurosci 2004, 5:553-564.
    • (2004) Nat Rev Neurosci , vol.5 , pp. 553-564
    • Rogawski, M.A.1    Loscher, W.2
  • 115
    • 34247252905 scopus 로고    scopus 로고
    • Randomized, multicenter, dose-ranging trial of retigabine for partial-onset seizures
    • Porter R.J., Partiot A., Sachdeo R., et al. Randomized, multicenter, dose-ranging trial of retigabine for partial-onset seizures. Neurology 2007, 68:1197-1204.
    • (2007) Neurology , vol.68 , pp. 1197-1204
    • Porter, R.J.1    Partiot, A.2    Sachdeo, R.3
  • 116
    • 3042748137 scopus 로고    scopus 로고
    • The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam
    • Lynch B.A., Lambeng N., Nocka K., et al. The synaptic vesicle protein SV2A is the binding site for the antiepileptic drug levetiracetam. Proc Natl Acad Sci U S A 2004, 101:9861-9866.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 9861-9866
    • Lynch, B.A.1    Lambeng, N.2    Nocka, K.3
  • 117
    • 0033398955 scopus 로고    scopus 로고
    • 2+ regulators in neurotransmitter release
    • 2+ regulators in neurotransmitter release. Neuron 1999, 24:1003-1016.
    • (1999) Neuron , vol.24 , pp. 1003-1016
    • Janz, R.1    Goda, Y.2    Geppert, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.