메뉴 건너뛰기




Volumn 31, Issue 5, 2011, Pages 506-518

Genetics of epilepsy

Author keywords

brain development; brain metabolism; complex genetics; copy number variation; drug response; drug toxicity; Epilepsy; gene mapping; genetic association studies; ion channel; Mendelian genetics; mutation analysis; neurotransmitter; pharmacogenetics; single nucleotide polymorphism

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; PHENYTOIN;

EID: 84856197882     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0031-1299789     Document Type: Article
Times cited : (36)

References (139)
  • 1
    • 67349192949 scopus 로고    scopus 로고
    • The descriptive epidemiology of epilepsy-A review
    • Banerjee P N., Filippi D, Allen Hauser W. The descriptive epidemiology of epilepsy-a review. Epilepsy Res 2009 85 1 31-45
    • (2009) Epilepsy Res , vol.85 , Issue.1 , pp. 31-45
    • Banerjee, P.N.1    Filippi, D.2    Allen Hauser, W.3
  • 2
    • 58449109530 scopus 로고    scopus 로고
    • Translational research in epilepsy genetics: Sodium channels in man to interneuronopathy in mouse
    • Mullen S A., Scheffer I E. Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse. Arch Neurol 2009 66 1 21-26
    • (2009) Arch Neurol , vol.66 , Issue.1 , pp. 21-26
    • Mullen, S.A.1    Scheffer, I.E.2
  • 3
    • 0031748082 scopus 로고    scopus 로고
    • Epilepsies in twins: Genetics of the major epilepsy syndromes
    • DOI 10.1002/ana.410430405
    • Berkovic S F., Howell R A., Hay D A., Hopper J L. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998 43 4 435-445 (Pubitemid 28231717)
    • (1998) Annals of Neurology , vol.43 , Issue.4 , pp. 435-445
    • Berkovic, S.F.1    Howell, R.A.2    Hay, D.A.3    Hopper, J.L.4
  • 4
    • 79957603217 scopus 로고    scopus 로고
    • Epilepsy geneticspast, present, and future
    • Poduri A, Lowenstein D. Epilepsy geneticspast, present, and future. Curr Opin Genet Dev 2011 21 3 325-332
    • (2011) Curr Opin Genet Dev , vol.21 , Issue.3 , pp. 325-332
    • Poduri, A.1    Lowenstein, D.2
  • 5
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on Classification and Terminology of the International League Against Epilepsy
    • Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989 30 4 389-399
    • (1989) Epilepsia , vol.30 , Issue.4 , pp. 389-399
  • 6
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
    • Berg A T., Berkovic S F., Brodie M J. et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010 51 4 676-685
    • (2010) Epilepsia , vol.51 , Issue.4 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 7
    • 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 5 359-365
    • (2009) Brain Dev , vol.31 , Issue.5 , pp. 359-365
    • Nakayama, J.1
  • 8
    • 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., Sutherland G R., Mulley J C. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996 33 4 308-312
    • (1996) J Med Genet , vol.33 , Issue.4 , pp. 308-312
    • Wallace, R.H.1    Berkovic, S.F.2    Howell, R.A.3    Sutherland, G.R.4    Mulley, J.C.5
  • 14
    • 84856199588 scopus 로고    scopus 로고
    • Febrile seizures and idiopathic epilepsy: A clinical and genetic study in a Finnish family
    • Siren A, Nuutila A, Anttonen A et al. Febrile seizures and idiopathic epilepsy: a clinical and genetic study in a Finnish family. Epilepsia 2006 47 12-12
    • (2006) Epilepsia , vol.47 , pp. 12-12
    • Siren, A.1    Nuutila, A.2    Anttonen, A.3
  • 15
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
    • DOI 10.1093/brain/120.3.479
    • 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 (Pubitemid 27153640)
    • (1997) Brain , vol.120 , Issue.3 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 20
    • 65549094126 scopus 로고    scopus 로고
    • Clinical spectrum of SCN1A mutations
    • Gambardella A, Marini C. Clinical spectrum of SCN1A mutations. Epilepsia 2009 50 Suppl 5 20-23
    • (2009) Epilepsia , vol.50 , Issue.SUPPL. 5 , pp. 20-23
    • Gambardella, A.1    Marini, C.2
  • 21
    • 77954512288 scopus 로고    scopus 로고
    • Mutations in GABAA receptor subunits associated with genetic epilepsies
    • Macdonald R L., Kang J Q., Gallagher M J. Mutations in GABAA receptor subunits associated with genetic epilepsies. J Physiol 2010 588 Pt 11 1861-1869
    • (2010) J Physiol , vol.588 , Issue.PART 11 , pp. 1861-1869
    • MacDonald, R.L.1    Kang, J.Q.2    Gallagher, M.J.3
  • 22
    • 77955881836 scopus 로고    scopus 로고
    • Protocadherin 19 mutations in girls with infantile-onset epilepsy
    • Marini C, Mei D, Parmeggiani L et al. Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 2010 75 7 646-653
    • (2010) Neurology , vol.75 , Issue.7 , pp. 646-653
    • Marini, C.1    Mei, D.2    Parmeggiani, L.3
  • 23
    • 78650456921 scopus 로고    scopus 로고
    • Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
    • Depienne C, Trouillard O, Bouteiller D et al. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat 2011 32 1 E1959-E1975
    • (2011) Hum Mutat , vol.32 , Issue.1
    • Depienne, C.1    Trouillard, O.2    Bouteiller, D.3
  • 24
    • 0000737282 scopus 로고
    • Les épilepsies graves de l'enfant
    • Dravet C. Les épilepsies graves de l'enfant. Vie Med 1978 8 543-548
    • (1978) Vie Med , vol.8 , pp. 543-548
    • Dravet, C.1
  • 25
    • 79953726784 scopus 로고    scopus 로고
    • The core Dravet syndrome phenotype
    • Dravet C. The core Dravet syndrome phenotype. Epilepsia 2011 52 Suppl 2 3-9
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 2 , pp. 3-9
    • Dravet, C.1
  • 26
    • 68549107888 scopus 로고    scopus 로고
    • Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood
    • Zupanc M L. Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood. J Child Neurol 2009 24 8, Suppl 6S-14S
    • (2009) J Child Neurol , vol.24 , Issue.8 SUPPL.
    • Zupanc, M.L.1
  • 27
    • 0017116633 scopus 로고
    • On the specific age dependent epileptic syndrome: The early- infantile epileptic encephalopathy with suppression-burst. [in Japanese with English abstract]
    • Ohtahara S et al. On the specific age dependent epileptic syndrome: the early- infantile epileptic encephalopathy with suppression-burst. [in Japanese with English abstract]. No To Hattatsu 1976 8 270-279
    • (1976) No to Hattatsu , vol.8 , pp. 270-279
    • Ohtahara, S.1
  • 29
    • 79953689051 scopus 로고    scopus 로고
    • The genetics of Dravet syndrome
    • Marini C, Scheffer I E., Nabbout R et al. The genetics of Dravet syndrome. Epilepsia 2011 52 Suppl 2 24-29
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 2 , pp. 24-29
    • Marini, C.1    Scheffer, I.E.2    Nabbout, R.3
  • 30
    • 64449088896 scopus 로고    scopus 로고
    • Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus
    • Scheffer I E., Zhang Y-H, Jansen F E., Dibbens L. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009 31 5 394-400
    • (2009) Brain Dev , vol.31 , Issue.5 , pp. 394-400
    • Scheffer, I.E.1    Zhang, Y.-H.2    Jansen, F.E.3    Dibbens, L.4
  • 31
    • 67649985908 scopus 로고    scopus 로고
    • SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
    • Marini C, Scheffer I E., Nabbout R et al. SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Epilepsia 2009 50 7 1670-1678
    • (2009) Epilepsia , vol.50 , Issue.7 , pp. 1670-1678
    • Marini, C.1    Scheffer, I.E.2    Nabbout, R.3
  • 34
    • 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 13 9823-9834
    • (2010) J Biol Chem , vol.285 , Issue.13 , pp. 9823-9834
    • Martin, M.S.1    Dutt, K.2    Papale, L.A.3
  • 36
    • 78649439572 scopus 로고    scopus 로고
    • Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress
    • Kelley S A., Kossoff E H. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol 2010 52 11 988-993
    • (2010) Dev Med Child Neurol , vol.52 , Issue.11 , pp. 988-993
    • Kelley, S.A.1    Kossoff, E.H.2
  • 37
    • 77949465465 scopus 로고    scopus 로고
    • Infantile spasms
    • Kossoff E H. Infantile spasms. Neurologist 2010 16 2 69-75
    • (2010) Neurologist , vol.16 , Issue.2 , pp. 69-75
    • Kossoff, E.H.1
  • 38
    • 77955082451 scopus 로고    scopus 로고
    • ARX spectrum disorders: Making inroads into the molecular pathology
    • Shoubridge C, Fullston T, Gécz J. ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat 2010 31 8 889-900
    • (2010) Hum Mutat , vol.31 , Issue.8 , pp. 889-900
    • Shoubridge, C.1    Fullston, T.2    Gécz, J.3
  • 42
    • 80053564430 scopus 로고    scopus 로고
    • STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients
    • Mignot C, Moutard M L., Trouillard O et al. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011 52 10 1820-1827
    • (2011) Epilepsia , vol.52 , Issue.10 , pp. 1820-1827
    • Mignot, C.1    Moutard, M.L.2    Trouillard, O.3
  • 43
    • 78650006703 scopus 로고    scopus 로고
    • STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
    • Saitsu H, Kato M, Okada I et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia 2010 51 12 2397-2405
    • (2010) Epilepsia , vol.51 , Issue.12 , pp. 2397-2405
    • Saitsu, H.1    Kato, M.2    Okada, I.3
  • 44
    • 77957686537 scopus 로고    scopus 로고
    • Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
    • Kurian M A., Meyer E, Vassallo G et al. Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy. Brain 2010 133 10 2964-2970
    • (2010) Brain , vol.133 , Issue.10 , pp. 2964-2970
    • Kurian, M.A.1    Meyer, E.2    Vassallo, G.3
  • 48
    • 79952556503 scopus 로고    scopus 로고
    • Proposed genetic classification of the benign familial neonatal and infantile epilepsies
    • Mulley J C., Heron S E., Dibbens L M. Proposed genetic classification of the benign familial neonatal and infantile epilepsies. Epilepsia 2011 52 3 649-650
    • (2011) Epilepsia , vol.52 , Issue.3 , pp. 649-650
    • Mulley, J.C.1    Heron, S.E.2    Dibbens, L.M.3
  • 49
    • 79251629006 scopus 로고    scopus 로고
    • Epilepsies and epileptic syndromes starting in the neonatal period
    • Yamamoto H, Okumura A, Fukuda M. Epilepsies and epileptic syndromes starting in the neonatal period. Brain Dev 2011 33 3 213-220
    • (2011) Brain Dev , vol.33 , Issue.3 , pp. 213-220
    • Yamamoto, H.1    Okumura, A.2    Fukuda, M.3
  • 50
    • 0344012023 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: Expansion of the functional and mutation spectrum
    • DOI 10.1093/brain/awg286
    • Singh N A., Westenskow P, Charlier C et al, BFNC Physician Consortium. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain 2003 126 Pt 12 2726-2737 (Pubitemid 37463091)
    • (2003) Brain , vol.126 , Issue.12 , pp. 2726-2737
    • Singh, N.A.1    Westenskow, P.2    Charlier, C.3    Pappas, C.4    Leslie, J.5    Dillon, J.6    Anderson, V.E.7    Sanguinetti, M.C.8    Leppert, M.F.9
  • 51
    • 67650471424 scopus 로고    scopus 로고
    • Functional analysis of novel KCNQ2 mutations found in patients with benign familial neonatal convulsions
    • Volkers L, Rook M B., Das JHG et al. Functional analysis of novel KCNQ2 mutations found in patients with benign familial neonatal convulsions. Neurosci Lett 2009 462 1 24-29
    • (2009) Neurosci Lett , vol.462 , Issue.1 , pp. 24-29
    • Volkers, L.1    Rook, M.B.2    Das, J.H.G.3
  • 53
    • 58149401195 scopus 로고    scopus 로고
    • Contribution of KCNQ2 and KCNQ3 to the medium and slow afterhyperpolarization currents
    • Tzingounis A V., Nicoll R A. Contribution of KCNQ2 and KCNQ3 to the medium and slow afterhyperpolarization currents. Proc Natl Acad Sci U S A 2008 105 50 19974-19979
    • (2008) Proc Natl Acad Sci U S A , vol.105 , Issue.50 , pp. 19974-19979
    • Tzingounis, A.V.1    Nicoll, R.A.2
  • 54
    • 41749110454 scopus 로고    scopus 로고
    • Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions
    • Kanaumi T, Takashima S, Iwasaki H et al. Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain Dev 2008 30 5 362-369
    • (2008) Brain Dev , vol.30 , Issue.5 , pp. 362-369
    • Kanaumi, T.1    Takashima, S.2    Iwasaki, H.3
  • 56
    • 78049523940 scopus 로고    scopus 로고
    • SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
    • Liao Y, Anttonen A-K, Liukkonen E et al. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 2010 75 16 1454-1458
    • (2010) Neurology , vol.75 , Issue.16 , pp. 1454-1458
    • Liao, Y.1    Anttonen, A.-K.2    Liukkonen, E.3
  • 60
    • 77956361137 scopus 로고    scopus 로고
    • TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
    • Falace A, Filipello F, La Padula V et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet 2010 87 3 365-370
    • (2010) Am J Hum Genet , vol.87 , Issue.3 , pp. 365-370
    • Falace, A.1    Filipello, F.2    La Padula, V.3
  • 61
    • 33746356908 scopus 로고    scopus 로고
    • TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism
    • DOI 10.1038/nature04847, PII NATURE04847
    • Pan X, Eathiraj S, Munson M, Lambright D G. TBC-domain GAPs for Rab GTPases accelerate GTP hydrolysis by a dual-finger mechanism. Nature 2006 442 7100 303-306 (Pubitemid 44114905)
    • (2006) Nature , vol.442 , Issue.7100 , pp. 303-306
    • Pan, X.1    Eathiraj, S.2    Munson, M.3    Lambright, D.G.4
  • 63
    • 34547812229 scopus 로고    scopus 로고
    • ARF6 in the nervous system
    • DOI 10.1016/j.ejcb.2007.04.007, PII S0171933507000647
    • Jaworski J. ARF6 in the nervous system. Eur J Cell Biol 2007 86 9 513-524 (Pubitemid 47233377)
    • (2007) European Journal of Cell Biology , vol.86 , Issue.9 , pp. 513-524
    • Jaworski, J.1
  • 64
    • 77956394126 scopus 로고    scopus 로고
    • A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
    • Corbett M A., Bahlo M, Jolly L et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet 2010 87 3 371-375
    • (2010) Am J Hum Genet , vol.87 , Issue.3 , pp. 371-375
    • Corbett, M.A.1    Bahlo, M.2    Jolly, L.3
  • 66
    • 33748776285 scopus 로고    scopus 로고
    • Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
    • DOI 10.1016/j.eplepsyres.2006.06.001, PII S0920121106002142
    • 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 2-3 129-134 (Pubitemid 44416190)
    • (2006) Epilepsy Research , vol.71 , Issue.2-3 , pp. 129-134
    • Ma, S.1    Blair, M.A.2    Abou-Khalil, B.3    Lagrange, A.H.4    Gurnett, C.A.5    Hedera, P.6
  • 67
    • 75849139306 scopus 로고    scopus 로고
    • Distribution of EFHC1 or myoclonin 1 in mouse neural structures
    • Léon C, de Nijs L, Chanas G et al. Distribution of EFHC1 or myoclonin 1 in mouse neural structures. Epilepsy Res 2010 88 2-3 196-207
    • (2010) Epilepsy Res , vol.88 , Issue.2-3 , pp. 196-207
    • Léon, C.1    De Nijs, L.2    Chanas, G.3
  • 68
    • 38049062524 scopus 로고    scopus 로고
    • Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia
    • Suzuki T, Inoue I, Yamagata T et al. Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem Biophys Res Commun 2008 367 1 226-233
    • (2008) Biochem Biophys Res Commun , vol.367 , Issue.1 , pp. 226-233
    • Suzuki, T.1    Inoue, I.2    Yamagata, T.3
  • 70
    • 70349554367 scopus 로고    scopus 로고
    • EFHC1 interacts with microtubules to regulate cell division and cortical development
    • de Nijs L, Léon C, Nguyen L et al. EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat Neurosci 2009 12 10 1266-1274
    • (2009) Nat Neurosci , vol.12 , Issue.10 , pp. 1266-1274
    • De Nijs, L.1    Léon, C.2    Nguyen, L.3
  • 71
    • 33748696025 scopus 로고    scopus 로고
    • MRI reveals structural abnormalities in patients with idiopathic generalized epilepsy
    • DOI 10.1212/01.wnl.0000233886.55203.bd, PII 0000611420060912000026
    • Betting L E., Mory S B., Lopes-Cendes I et al. MRI reveals structural abnormalities in patients with idiopathic generalized epilepsy. Neurology 2006 67 5 848-852 (Pubitemid 44394201)
    • (2006) Neurology , vol.67 , Issue.5 , pp. 848-852
    • Betting, L.E.1    Mory, S.B.2    Lopes-Cendes, I.3    Li, L.M.4    Guerreiro, M.M.5    Guerreiro, C.A.M.6    Cendes, F.7
  • 73
    • 42549161593 scopus 로고    scopus 로고
    • Cortical thickness abnormality in juvenile myoclonic epilepsy
    • Tae W S., Kim S H., Joo E Y. et al. Cortical thickness abnormality in juvenile myoclonic epilepsy. J Neurol 2008 255 4 561-566
    • (2008) J Neurol , vol.255 , Issue.4 , pp. 561-566
    • Tae, W.S.1    Kim, S.H.2    Joo, E.Y.3
  • 74
    • 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 2 184-189
    • (2002) Nat Genet , vol.31 , Issue.2 , pp. 184-189
    • Cossette, P.1    Liu, L.2    Brisebois, K.3
  • 77
    • 69349104195 scopus 로고    scopus 로고
    • CLCN2 variants in idiopathic generalized epilepsy
    • Kleefuss-Lie A, Friedl W, Cichon S et al. CLCN2 variants in idiopathic generalized epilepsy. Nat Genet 2009 41 9 954-955
    • (2009) Nat Genet , vol.41 , Issue.9 , pp. 954-955
    • Kleefuss-Lie, A.1    Friedl, W.2    Cichon, S.3
  • 82
    • 77955363549 scopus 로고    scopus 로고
    • Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
    • Mullen S A., Suls A, De Jonghe P, Berkovic S F., Scheffer I E. Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. Neurology 2010 75 5 432-440
    • (2010) Neurology , vol.75 , Issue.5 , pp. 432-440
    • Mullen, S.A.1    Suls, A.2    De Jonghe, P.3    Berkovic, S.F.4    Scheffer, I.E.5
  • 83
    • 70350075265 scopus 로고    scopus 로고
    • Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
    • Suls A, Mullen S A., Weber Y G. et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol 2009 66 3 415-419
    • (2009) Ann Neurol , vol.66 , Issue.3 , pp. 415-419
    • Suls, A.1    Mullen, S.A.2    Weber, Y.G.3
  • 86
    • 67649421265 scopus 로고    scopus 로고
    • The expanding phenotype of GLUT1-deficiency syndrome
    • Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev 2009 31 7 545-552
    • (2009) Brain Dev , vol.31 , Issue.7 , pp. 545-552
    • Brockmann, K.1
  • 87
    • 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 2 201-203
    • (1995) Nat Genet , vol.11 , Issue.2 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3
  • 89
    • 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 3 275-276
    • (2000) Nat Genet , vol.26 , Issue.3 , pp. 275-276
    • De Fusco, M.1    Becchetti, A.2    Patrignani, A.3
  • 92
    • 78049485650 scopus 로고    scopus 로고
    • Familial mesial temporal lobe epilepsy: A benign epilepsy syndrome showing complex inheritance
    • Crompton D E., Scheffer I E., Taylor I et al. Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 2010 133 11 3221-3231
    • (2010) Brain , vol.133 , Issue.11 , pp. 3221-3231
    • Crompton, D.E.1    Scheffer, I.E.2    Taylor, I.3
  • 93
    • 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 3 335-341
    • (2002) Nat Genet , vol.30 , Issue.3 , pp. 335-341
    • Kalachikov, S.1    Evgrafov, O.2    Ross, B.3
  • 94
    • 0037098957 scopus 로고    scopus 로고
    • A common protein interaction domain links two recently identified epilepsy genes
    • Scheel H, Tomiuk S, Hofmann K. A common protein interaction domain links two recently identified epilepsy genes. Hum Mol Genet 2002 11 15 1757-1762 (Pubitemid 34812096)
    • (2002) Human Molecular Genetics , vol.11 , Issue.15 , pp. 1757-1762
    • Scheel, H.1    Tomiuk, S.2    Hofmann, K.3
  • 96
    • 51649119269 scopus 로고    scopus 로고
    • Expression profile of Lgi1 gene in mouse brain during development
    • Ribeiro PAO, Sbragia L, Gilioli R et al. Expression profile of Lgi1 gene in mouse brain during development. J Mol Neurosci 2008 35 3 323-329
    • (2008) J Mol Neurosci , vol.35 , Issue.3 , pp. 323-329
    • Ribeiro, P.A.O.1    Sbragia, L.2    Gilioli, R.3
  • 97
    • 70350751418 scopus 로고    scopus 로고
    • LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology
    • Owuor K, Harel N Y., Englot D J. et al. LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology. Mol Cell Neurosci 2009 42 4 448-457
    • (2009) Mol Cell Neurosci , vol.42 , Issue.4 , pp. 448-457
    • Owuor, K.1    Harel, N.Y.2    Englot, D.J.3
  • 98
    • 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 8 3799-3804
    • (2010) Proc Natl Acad Sci U S A , vol.107 , Issue.8 , pp. 3799-3804
    • Fukata, Y.1    Lovero, K.L.2    Iwanaga, T.3
  • 99
    • 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 9 1702-1711
    • (2010) Hum Mol Genet , vol.19 , Issue.9 , pp. 1702-1711
    • Yu, Y.E.1    Wen, L.2    Silva, J.3
  • 100
    • 77955338789 scopus 로고    scopus 로고
    • Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: A case series
    • Lai M, Huijbers MGM, Lancaster E et al. Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case series. Lancet Neurol 2010 9 8 776-785
    • (2010) Lancet Neurol , vol.9 , Issue.8 , pp. 776-785
    • Lai, M.1    Huijbers, M.G.M.2    Lancaster, E.3
  • 101
    • 77956378343 scopus 로고    scopus 로고
    • Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia
    • Irani S R., Alexander S, Waters P et al. Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia. Brain 2010 133 9 2734-2748
    • (2010) Brain , vol.133 , Issue.9 , pp. 2734-2748
    • Irani, S.R.1    Alexander, S.2    Waters, P.3
  • 108
    • 79957591321 scopus 로고    scopus 로고
    • What disorders of cortical development tell us about the cortex: One plus one does not always make two
    • Manzini M C., Walsh C. What disorders of cortical development tell us about the cortex: one plus one does not always make two. Curr Opin Genet Dev 2011 21 3 333-339
    • (2011) Curr Opin Genet Dev , vol.21 , Issue.3 , pp. 333-339
    • Manzini, M.C.1    Walsh, C.2
  • 109
    • 77956263092 scopus 로고    scopus 로고
    • Genetic evaluation and counseling for epilepsy
    • Pal D K., Pong A W., Chung W K. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol 2010 16 8 445-453
    • (2010) Nat Rev Neurol , vol.16 , Issue.8 , pp. 445-453
    • Pal, D.K.1    Pong, A.W.2    Chung, W.K.3
  • 110
    • 55449120805 scopus 로고    scopus 로고
    • Genetic mapping in human disease
    • Altshuler D, Daly M J., Lander E S. Genetic mapping in human disease. Science 2008 322 5903 881-888
    • (2008) Science , vol.322 , Issue.5903 , pp. 881-888
    • Altshuler, D.1    Daly, M.J.2    Lander, E.S.3
  • 111
    • 79851472702 scopus 로고    scopus 로고
    • Common disease: Are causative alleles common or rare
    • Shields R. Common disease: are causative alleles common or rare? PLoS Biol 2011 9 1 e1001009
    • (2011) PLoS Biol , vol.9 , Issue.1
    • Shields, R.1
  • 118
    • 27244432237 scopus 로고    scopus 로고
    • Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy
    • DOI 10.1111/j.1528-1167.2005.00270.x
    • Lenzen K P., Heils A, Lorenz S, Hempelmann A, Sander T. Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Epilepsia 2005 46 10 1637-1641 (Pubitemid 44921939)
    • (2005) Epilepsia , vol.46 , Issue.10 , pp. 1637-1641
    • Lenzen, K.P.1    Heils, A.2    Lorenz, S.3    Hempelmann, A.4    Sander, T.5
  • 120
    • 79952575575 scopus 로고    scopus 로고
    • Epilepsy and the new cytogenetics
    • Mulley J C., Mefford H C. Epilepsy and the new cytogenetics. Epilepsia 2011 52 3 423-432
    • (2011) Epilepsia , vol.52 , Issue.3 , pp. 423-432
    • Mulley, J.C.1    Mefford, H.C.2
  • 121
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig I, Mefford H C., Sharp A J. et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009 41 2 160-162
    • (2009) Nat Genet , vol.41 , Issue.2 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3
  • 122
    • 77956628767 scopus 로고    scopus 로고
    • Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
    • Mefford H C., Muhle H, Ostertag P et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010 6 5 e1000962
    • (2010) PLoS Genet , vol.6 , Issue.5
    • Mefford, H.C.1    Muhle, H.2    Ostertag, P.3
  • 123
    • 77952096810 scopus 로고    scopus 로고
    • Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
    • Heinzen E L., Radtke R A., Urban T J. et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010 86 5 707-718
    • (2010) Am J Hum Genet , vol.86 , Issue.5 , pp. 707-718
    • Heinzen, E.L.1    Radtke, R.A.2    Urban, T.J.3
  • 124
    • 77954356949 scopus 로고    scopus 로고
    • Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study
    • Kasperavicite D, Catarino C B., Heinzen E L. et al. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 2010 133 Pt 7 2136-2147
    • (2010) Brain , vol.133 , Issue.PART 7 , pp. 2136-2147
    • Kasperavicite, D.1    Catarino, C.B.2    Heinzen, E.L.3
  • 125
    • 33846982963 scopus 로고    scopus 로고
    • Pharmacogenetics in neuropsychiatric diseases: Epilepsy as a model
    • Depondt C. Pharmacogenetics in neuropsychiatric diseases: epilepsy as a model. Acta Neurol Belg 2006 106 4 157-167 (Pubitemid 46243053)
    • (2006) Acta Neurologica Belgica , vol.106 , Issue.4 , pp. 157-167
    • Depondt, C.1
  • 126
    • 58149231251 scopus 로고    scopus 로고
    • The clinical impact of pharmacogenetics on the treatment of epilepsy
    • Löscher W, Klotz U, Zimprich F, Schmidt D. The clinical impact of pharmacogenetics on the treatment of epilepsy. Epilepsia 2009 50 1 1-23
    • (2009) Epilepsia , vol.50 , Issue.1 , pp. 1-23
    • Löscher, W.1    Klotz, U.2    Zimprich, F.3    Schmidt, D.4
  • 128
    • 66849121735 scopus 로고    scopus 로고
    • MDR1/ABCB1 polymorphisms and multidrug resistance in epilepsy: In and out of fashion
    • Löscher W, Delanty N. MDR1/ABCB1 polymorphisms and multidrug resistance in epilepsy: in and out of fashion. Pharmacogenomics 2009 10 5 711-713
    • (2009) Pharmacogenomics , vol.10 , Issue.5 , pp. 711-713
    • Löscher, W.1    Delanty, N.2
  • 129
    • 42049090602 scopus 로고    scopus 로고
    • Pharmacokinetic, pharmacodynamic, and pharmacogenetic targeted therapy of antiepileptic drugs
    • DOI 10.1097/FTD.0b013e318167d11b, PII 0000769120080400000007
    • Anderson G D. Pharmacokinetic, pharmacodynamic, and pharmacogenetic targeted therapy of antiepileptic drugs. Ther Drug Monit 2008 30 2 173-180 (Pubitemid 351521644)
    • (2008) Therapeutic Drug Monitoring , vol.30 , Issue.2 , pp. 173-180
    • Anderson, G.D.1
  • 130
    • 80051591108 scopus 로고    scopus 로고
    • A candidate gene study of antiepileptic drug tolerability and efficacy identifies an association of CYP2C9 variants with phenytoin toxicity
    • Depondt C, Godard P, Espel R S., Da Cruz A L., Lienard P, Pandolfo M. A candidate gene study of antiepileptic drug tolerability and efficacy identifies an association of CYP2C9 variants with phenytoin toxicity. Eur J Neurol 2011 18 9 1159-1164
    • (2011) Eur J Neurol , vol.18 , Issue.9 , pp. 1159-1164
    • Depondt, C.1    Godard, P.2    Espel, R.S.3    Da Cruz, A.L.4    Lienard, P.5    Pandolfo, M.6
  • 132
    • 47249085585 scopus 로고    scopus 로고
    • Association between SCN1A polymorphism and carbamazepine-resistant epilepsy
    • Abe T, Seo T, Ishitsu T, Nakagawa T, Hori M, Nakagawa K. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol 2008 66 2 304-307
    • (2008) Br J Clin Pharmacol , vol.66 , Issue.2 , pp. 304-307
    • Abe, T.1    Seo, T.2    Ishitsu, T.3    Nakagawa, T.4    Hori, M.5    Nakagawa, K.6
  • 133
    • 79955918406 scopus 로고    scopus 로고
    • A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy
    • Manna I, Gambardella A, Bianchi A et al. A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia 2011 52 5 e40-e44
    • (2011) Epilepsia , vol.52 , Issue.5
    • Manna, I.1    Gambardella, A.2    Bianchi, A.3
  • 134
    • 0035836342 scopus 로고    scopus 로고
    • TNFα promoter region gene polymorphisms in carbamazepine- hypersensitive patients
    • Pirmohamed M, Lin K, Chadwick D, Park B K. TNFalpha promoter region gene polymorphisms in carbamazepine-hypersensitive patients. Neurology 2001 56 7 890-896 (Pubitemid 32290806)
    • (2001) Neurology , vol.56 , Issue.7 , pp. 890-896
    • Pirmohamed, M.1    Lin, K.2    Chadwick, D.3    Park, B.K.4
  • 136
    • 79953216429 scopus 로고    scopus 로고
    • Carbamazepine-induced toxic effects and HLA-B1502 screening in Taiwan
    • Taiwan SJS Consortium 12
    • Chen P, Lin J-J, Lu C-S et al, Taiwan SJS Consortium. Carbamazepine-induced toxic effects and HLA-B1502 screening in Taiwan. N Engl J Med 2011 364 12 1126-1133
    • (2011) N Engl J Med , vol.364 , pp. 1126-1133
    • Chen, P.1    Lin, J.-J.2    Lu, C.-S.3
  • 137
    • 79551600984 scopus 로고    scopus 로고
    • Genome-wide association study identifies HLA-A3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population
    • Ozeki T, Mushiroda T, Yowang A et al. Genome-wide association study identifies HLA-A3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet 2011 20 5 1034-1041
    • (2011) Hum Mol Genet , vol.20 , Issue.5 , pp. 1034-1041
    • Ozeki, T.1    Mushiroda, T.2    Yowang, A.3
  • 138
    • 79953197983 scopus 로고    scopus 로고
    • HLA-A3101 and carbamazepine-induced hypersensitivity reactions in Europeans
    • McCormack M, Alfirevic A, Bourgeois S et al. HLA-A3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011 364 12 1134-1143
    • (2011) N Engl J Med , vol.364 , Issue.12 , pp. 1134-1143
    • McCormack, M.1    Alfirevic, A.2    Bourgeois, S.3
  • 139
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • Lee H Y., Huang Y, Bruneau N 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    Huang, Y.2    Bruneau, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.