메뉴 건너뛰기




Volumn 7, Issue 1, 2015, Pages

Advancing epilepsy genetics in the genomic era

Author keywords

[No Author keywords available]

Indexed keywords

COPY NUMBER VARIATION; EPILEPSY; GENE TECHNOLOGY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NONHUMAN; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; MUTATION; PHENOTYPE;

EID: 84955624592     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0214-7     Document Type: Review
Times cited : (165)

References (142)
  • 1
    • 84990171527 scopus 로고    scopus 로고
    • Epilepsy across the spectrum: promoting health and understanding
    • Washington DC: National Academies Press
    • England MJ, Liverman CT, Schultz AM, Strawbridge LM. Epilepsy across the spectrum: promoting health and understanding. Washington DC: National Academies Press; 2012.
    • (2012)
    • England, M.J.1    Liverman, C.T.2    Schultz, A.M.3    Strawbridge, L.M.4
  • 3
    • 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 AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde BW, 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;51:676-85.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3    Buchhalter, J.4    Cross, J.H.5    Emde, B.W.6    Engel, J.7
  • 4
    • 0024556094 scopus 로고
    • Seizure risk in offspring of parents with generalized versus partial epilepsy
    • Ottman R, Annegers JF, Hauser WA, Kurland LT. Seizure risk in offspring of parents with generalized versus partial epilepsy. Epilepsia. 1989;30:157-61.
    • (1989) Epilepsia , vol.30 , pp. 157-161
    • Ottman, R.1    Annegers, J.F.2    Hauser, W.A.3    Kurland, L.T.4
  • 5
    • 0020042837 scopus 로고
    • The risks of seizure disorders among relatives of patients with childhood onset epilepsy
    • Annegers JF, Hauser WA, Anderson VE, Kurland LT. The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology. 1982;32:174-9.
    • (1982) Neurology , vol.32 , pp. 174-179
    • Annegers, J.F.1    Hauser, W.A.2    Anderson, V.E.3    Kurland, L.T.4
  • 6
    • 0031748082 scopus 로고    scopus 로고
    • Epilepsies in twins: genetics of the major epilepsy syndromes
    • Berkovic SF, Howell RA, Hay DA, Hopper JL. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol. 1998;43:435-45.
    • (1998) Ann Neurol , vol.43 , pp. 435-445
    • Berkovic, S.F.1    Howell, R.A.2    Hay, D.A.3    Hopper, J.L.4
  • 8
    • 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 OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, 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;11:201-3.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6
  • 9
    • 17344372328 scopus 로고    scopus 로고
    • A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
    • Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet. 1998;18:25-9.
    • (1998) Nat Genet , vol.18 , pp. 25-29
    • Singh, N.A.1    Charlier, C.2    Stauffer, D.3    DuPont, B.R.4    Leach, R.J.5    Melis, R.6
  • 10
    • 0034987073 scopus 로고    scopus 로고
    • De Jonghe Pet. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
    • Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C. De Jonghe Pet. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68:1327-32.
    • (2001) Am J Hum Genet , vol.68 , pp. 1327-1332
    • Claes, L.1    Del-Favero, J.2    Ceulemans, B.3    Lagae, L.4    Broeckhoven, C.5
  • 11
    • 84255175953 scopus 로고    scopus 로고
    • Rare copy number variants are an important cause of epileptic encephalopathies
    • Mefford HC, Yendle SC, Hsu C, Cook J, Geraghty E, McMahon JM, et al. Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol. 2011;70:974-85.
    • (2011) Ann Neurol , vol.70 , pp. 974-985
    • Mefford, H.C.1    Yendle, S.C.2    Hsu, C.3    Cook, J.4    Geraghty, E.5    McMahon, J.M.6
  • 13
    • 2342484456 scopus 로고    scopus 로고
    • Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families
    • Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, et al. Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families. Epilepsia. 2004;45:467-78.
    • (2004) Epilepsia , vol.45 , pp. 467-478
    • Marini, C.1    Scheffer, I.E.2    Crossland, K.M.3    Grinton, B.E.4    Phillips, F.L.5    McMahon, J.M.6
  • 15
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 2010;133:23-32.
    • (2010) Brain , vol.133 , pp. 23-32
    • Kovel, C.G.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5    Leu, C.6
  • 17
    • 77956628767 scopus 로고    scopus 로고
    • Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
    • Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, et al. Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010;6:e1000962.
    • (2010) PLoS Genet , vol.6 , pp. e1000962
    • Mefford, H.C.1    Muhle, H.2    Ostertag, P.3    Spiczak, S.4    Buysse, K.5    Baker, C.6
  • 18
    • 84975810789 scopus 로고    scopus 로고
    • Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies
    • Lal D, Ruppert AK, Trucks H, Schulz H, de Kovel CG, Kasteleijn-Nolst Trenité D, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet. 2015;11:e1005226.
    • (2015) PLoS Genet , vol.11 , pp. e1005226
    • Lal, D.1    Ruppert, A.K.2    Trucks, H.3    Schulz, H.4    Kovel, C.G.5    Kasteleijn-Nolst Trenité, D.6
  • 19
    • 70350774172 scopus 로고    scopus 로고
    • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
    • Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet. 2009;18:3626-31.
    • (2009) Hum Mol Genet , vol.18 , pp. 3626-3631
    • Dibbens, L.M.1    Mullen, S.2    Helbig, I.3    Mefford, H.C.4    Bayly, M.A.5    Bellows, S.6
  • 20
    • 84875052549 scopus 로고    scopus 로고
    • Familial cosegregation of rare genetic variants with disease in complex disorders
    • Helbig I, Hodge SE, Ottman R. Familial cosegregation of rare genetic variants with disease in complex disorders. Eur J Hum Genet. 2013;21:444-50.
    • (2013) Eur J Hum Genet , vol.21 , pp. 444-450
    • Helbig, I.1    Hodge, S.E.2    Ottman, R.3
  • 21
    • 77952096810 scopus 로고    scopus 로고
    • Depondt C, Need AC, et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
    • Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL. Depondt C, Need AC, et al. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet. 2010;86:707-18.
    • (2010) Am J Hum Genet , vol.86 , pp. 707-718
    • Heinzen, E.L.1    Radtke, R.A.2    Urban, T.J.3    Cavalleri, G.L.4
  • 22
    • 84888253405 scopus 로고    scopus 로고
    • Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
    • Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, et al. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology. 2013;81:1507-14.
    • (2013) Neurology , vol.81 , pp. 1507-1514
    • Mullen, S.A.1    Carvill, G.L.2    Bellows, S.3    Bayly, M.A.4    Trucks, H.5    Lal, D.6
  • 24
    • 84873407345 scopus 로고    scopus 로고
    • Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
    • Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, et al. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia. 2013;54:265-71.
    • (2013) Epilepsia , vol.54 , pp. 265-271
    • Lal, D.1    Trucks, H.2    Møller, R.S.3    Hjalgrim, H.4    Koeleman, B.P.5    Kovel, C.G.6
  • 25
    • 84877010942 scopus 로고    scopus 로고
    • Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
    • Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, et al. Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet. 2013;22:2055-66.
    • (2013) Hum Mol Genet , vol.22 , pp. 2055-2066
    • Lionel, A.C.1    Vaags, A.K.2    Sato, D.3    Gazzellone, M.J.4    Mitchell, E.B.5    Chen, H.Y.6
  • 26
    • 84937728425 scopus 로고    scopus 로고
    • Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
    • Epilepsy Phenome/Genome Project & Epi4K Consortium. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Ann Neurol. 2015;78:323-8.
    • (2015) Ann Neurol , vol.78 , pp. 323-328
  • 28
    • 84879684377 scopus 로고    scopus 로고
    • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
    • Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013;45:825-30.
    • (2013) Nat Genet , vol.45 , pp. 825-830
    • Carvill, G.L.1    Heavin, S.B.2    Yendle, S.C.3    McMahon, J.M.4    O'Roak, B.J.5    Cook, J.6
  • 31
    • 84922329183 scopus 로고    scopus 로고
    • Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome
    • Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014;95:579-83.
    • (2014) Am J Hum Genet , vol.95 , pp. 579-583
    • Lalani, S.R.1    Zhang, J.2    Schaaf, C.P.3    Brown, C.W.4    Magoulas, P.5    Tsai, A.C.6
  • 32
    • 84961289738 scopus 로고    scopus 로고
    • Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
    • Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M, et al. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J Med Genet. 2014;51:806-13.
    • (2014) J Med Genet , vol.51 , pp. 806-813
    • Hunt, D.1    Leventer, R.J.2    Simons, C.3    Taft, R.4    Swoboda, K.J.5    Gawne-Cain, M.6
  • 33
    • 84942076987 scopus 로고    scopus 로고
    • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies
    • International League Against Epilepsy Consortium on Complex Epilepsies. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol. 2014;13:893-903.
    • (2014) Lancet Neurol , vol.13 , pp. 893-903
  • 34
    • 84922551032 scopus 로고    scopus 로고
    • Common variants associated with general and MMR vaccine-related febrile seizures
    • Feenstra B, Pasternak B, Geller F, Carstensen L, Wang T, Huang F, et al. Common variants associated with general and MMR vaccine-related febrile seizures. Nat Genet. 2014;46:1274-82.
    • (2014) Nat Genet , vol.46 , pp. 1274-1282
    • Feenstra, B.1    Pasternak, B.2    Geller, F.3    Carstensen, L.4    Wang, T.5    Huang, F.6
  • 35
    • 84858070732 scopus 로고    scopus 로고
    • De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
    • Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet. 2012;90:502-10.
    • (2012) Am J Hum Genet , vol.90 , pp. 502-510
    • Veeramah, K.R.1    O'Brien, J.E.2    Meisler, M.H.3    Cheng, X.4    Dib-Hajj, S.D.5    Waxman, S.G.6
  • 38
    • 84908010182 scopus 로고    scopus 로고
    • Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
    • de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van't Slot R, van Lieshout S, et al. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. Epilepsy Res. 2014;108:1511-8.
    • (2014) Epilepsy Res , vol.108 , pp. 1511-1518
    • Kovel, C.G.1    Meisler, M.H.2    Brilstra, E.H.3    Berkestijn, F.M.4    Slot, R.5    Lieshout, S.6
  • 39
    • 84902106984 scopus 로고    scopus 로고
    • A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
    • Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, et al. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis. 2014;69:117-23.
    • (2014) Neurobiol Dis , vol.69 , pp. 117-123
    • Estacion, M.1    O'Brien, J.E.2    Conravey, A.3    Hammer, M.F.4    Waxman, S.G.5    Dib-Hajj, S.D.6
  • 40
    • 84901670752 scopus 로고    scopus 로고
    • De novo mutations in HCN1 cause early infantile epileptic encephalopathy
    • Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, et al. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014;46:640-5.
    • (2014) Nat Genet , vol.46 , pp. 640-645
    • Nava, C.1    Dalle, C.2    Rastetter, A.3    Striano, P.4    Kovel, C.G.5    Nabbout, R.6
  • 41
    • 36549022629 scopus 로고    scopus 로고
    • Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy
    • Tang B, Sander T, Craven KB, Hempelmann A, Escayg A. Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. Neurobiol Dis. 2008;29:59-70.
    • (2008) Neurobiol Dis , vol.29 , pp. 59-70
    • Tang, B.1    Sander, T.2    Craven, K.B.3    Hempelmann, A.4    Escayg, A.5
  • 44
    • 84890151248 scopus 로고    scopus 로고
    • De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
    • Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, et al. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet. 2013;93:967-75.
    • (2013) Am J Hum Genet , vol.93 , pp. 967-975
    • Suls, A.1    Jaehn, J.A.2    Kecskés, A.3    Weber, Y.4    Weckhuysen, S.5    Craiu, D.C.6
  • 46
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217-21.
    • (2013) Nature , vol.501 , pp. 217-221
  • 47
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485:242-5.
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1    Kou, Y.2    Liu, L.3    Ma'ayan, A.4    Samocha, K.E.5    Sabo, A.6
  • 51
    • 84877765743 scopus 로고    scopus 로고
    • MEF2C haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
    • Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, et al. MEF2C haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013;14:99-111.
    • (2013) Neurogenetics , vol.14 , pp. 99-111
    • Paciorkowski, A.R.1    Traylor, R.N.2    Rosenfeld, J.A.3    Hoover, J.M.4    Harris, C.J.5    Winter, S.6
  • 52
    • 77952715676 scopus 로고    scopus 로고
    • Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    • Zweier M, Gregor A, Zweier C, Engels H, Sticht H, Wohlleber E, et al. Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat. 2010;31:722-33.
    • (2010) Hum Mutat , vol.31 , pp. 722-733
    • Zweier, M.1    Gregor, A.2    Zweier, C.3    Engels, H.4    Sticht, H.5    Wohlleber, E.6
  • 53
    • 84867637404 scopus 로고    scopus 로고
    • MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies
    • Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, et al. MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies. Clin Genet. 2012;82:499-501.
    • (2012) Clin Genet , vol.82 , pp. 499-501
    • Lambert, L.1    Bienvenu, T.2    Allou, L.3    Valduga, M.4    Echenne, B.5    Diebold, B.6
  • 54
  • 55
    • 84925233693 scopus 로고    scopus 로고
    • De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy
    • Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, et al. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. Clin Genet. 2014;87:356-61.
    • (2014) Clin Genet , vol.87 , pp. 356-361
    • Nakajima, J.1    Okamoto, N.2    Tohyama, J.3    Kato, M.4    Arai, H.5    Funahashi, O.6
  • 56
  • 57
    • 84934277859 scopus 로고    scopus 로고
    • The eEF1A proteins: at the crossroads of oncogenesis, apoptosis, and viral infections
    • Abbas W, Kumar A, Herbein G. The eEF1A proteins: at the crossroads of oncogenesis, apoptosis, and viral infections. Front Oncol. 2015;5:75.
    • (2015) Front Oncol , vol.5 , pp. 75
    • Abbas, W.1    Kumar, A.2    Herbein, G.3
  • 59
  • 61
    • 84903974365 scopus 로고    scopus 로고
    • DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
    • Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology. 2014;82:2101-6.
    • (2014) Neurology , vol.82 , pp. 2101-2106
    • Picard, F.1    Makrythanasis, P.2    Navarro, V.3    Ishida, S.4    Bellescize, J.5    Ville, D.6
  • 62
    • 84902281810 scopus 로고    scopus 로고
    • Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
    • Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014;75:782-7.
    • (2014) Ann Neurol , vol.75 , pp. 782-787
    • Scheffer, I.E.1    Heron, S.E.2    Regan, B.M.3    Mandelstam, S.4    Crompton, D.E.5    Hodgson, B.L.6
  • 63
    • 84925430981 scopus 로고    scopus 로고
    • Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
    • Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015;77:675-83.
    • (2015) Ann Neurol , vol.77 , pp. 675-683
    • Baulac, S.1    Ishida, S.2    Marsan, E.3    Miquel, C.4    Biraben, A.5    Nguyen, D.K.6
  • 64
    • 84925674581 scopus 로고    scopus 로고
    • Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
    • D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015;77:720-5.
    • (2015) Ann Neurol , vol.77 , pp. 720-725
    • D'Gama, A.M.1    Geng, Y.2    Couto, J.A.3    Martin, B.4    Boyle, E.A.5    LaCoursiere, C.M.6
  • 65
    • 84926372078 scopus 로고    scopus 로고
    • mTOR signaling in epilepsy: insights from malformations of cortical development
    • Crino PB. mTOR signaling in epilepsy: insights from malformations of cortical development. Cold Spring Harb Perspect Med. 2015;5:a022442.
    • (2015) Cold Spring Harb Perspect Med , vol.5 , pp. a022442
    • Crino, P.B.1
  • 66
    • 84931090578 scopus 로고    scopus 로고
    • Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
    • Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, et al. Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nat Med. 2015;21:395-400.
    • (2015) Nat Med , vol.21 , pp. 395-400
    • Lim, J.S.1    Kim, W.I.2    Kang, H.C.3    Kim, S.H.4    Park, A.H.5    Park, E.K.6
  • 67
    • 84865023341 scopus 로고    scopus 로고
    • Epi4K: gene discovery in 4,000 genomes
    • The Epi4K Consortium. Epi4K: gene discovery in 4,000 genomes. Epilepsia. 2012;53:1457-67.
    • (2012) Epilepsia , vol.53 , pp. 1457-1467
  • 68
    • 84921803785 scopus 로고    scopus 로고
    • Epilepsy Phenome/Genome Project, and Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
    • EuroEPINOMICS-RES Consortium. Epilepsy Phenome/Genome Project, and Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014;95:360-70.
    • (2014) Am J Hum Genet , vol.95 , pp. 360-370
  • 70
    • 84899952041 scopus 로고    scopus 로고
    • KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
    • Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol. 2014;75:581-90.
    • (2014) Ann Neurol , vol.75 , pp. 581-590
    • Milligan, C.J.1    Li, M.2    Gazina, E.V.3    Heron, S.E.4    Nair, U.5    Trager, C.6
  • 71
    • 84924787957 scopus 로고    scopus 로고
    • Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits
    • Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, et al. Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J Neurosci. 2015;35:3782-93.
    • (2015) J Neurosci , vol.35 , pp. 3782-3793
    • Miceli, F.1    Soldovieri, M.V.2    Ambrosino, P.3    Maria, M.4    Migliore, M.5    Migliore, R.6
  • 73
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012;485:246-50.
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3    Karakoc, E.4    Krumm, N.5    Coe, B.P.6
  • 74
    • 84893708713 scopus 로고    scopus 로고
    • A de novo convergence of autism genetics and molecular neuroscience
    • Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 2014;37:95-105.
    • (2014) Trends Neurosci , vol.37 , pp. 95-105
    • Krumm, N.1    O'Roak, B.J.2    Shendure, J.3    Eichler, E.E.4
  • 75
    • 84864402732 scopus 로고    scopus 로고
    • De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
    • Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012;44:941-5.
    • (2012) Nat Genet , vol.44 , pp. 941-945
    • Lee, J.H.1    Huynh, M.2    Silhavy, J.L.3    Kim, S.4    Dixon-Salazar, T.5    Heiberg, A.6
  • 77
    • 84864400015 scopus 로고    scopus 로고
    • De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
    • Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012;44:934-40.
    • (2012) Nat Genet , vol.44 , pp. 934-940
    • Riviere, J.B.1    Mirzaa, G.M.2    O'Roak, B.J.3    Beddaoui, M.4    Alcantara, D.5    Conway, R.L.6
  • 78
    • 84900864274 scopus 로고    scopus 로고
    • Genetic testing in the epilepsies-developments and dilemmas
    • Poduri A, Sheidley BR, Shostak S, Ottman R. Genetic testing in the epilepsies-developments and dilemmas. Nat Rev Neurol. 2014;10:293-9.
    • (2014) Nat Rev Neurol , vol.10 , pp. 293-299
    • Poduri, A.1    Sheidley, B.R.2    Shostak, S.3    Ottman, R.4
  • 81
    • 84868196065 scopus 로고    scopus 로고
    • De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
    • Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44:1255-9.
    • (2012) Nat Genet , vol.44 , pp. 1255-1259
    • Barcia, G.1    Fleming, M.R.2    Deligniere, A.3    Gazula, V.R.4    Brown, M.R.5    Langouet, M.6
  • 83
    • 84887348516 scopus 로고    scopus 로고
    • Discovery of a retigabine derivative that inhibits KCNQ2 potassium channels
    • Hu HN, Zhou PZ, Chen F, Li M, Nan FJ, Gao ZB. Discovery of a retigabine derivative that inhibits KCNQ2 potassium channels. Acta Pharmacol Sin. 2013;34:1359-66.
    • (2013) Acta Pharmacol Sin , vol.34 , pp. 1359-1366
    • Hu, H.N.1    Zhou, P.Z.2    Chen, F.3    Li, M.4    Nan, F.J.5    Gao, Z.B.6
  • 84
    • 84897970738 scopus 로고    scopus 로고
    • Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
    • Orhan G, Bock M, Schepers D, Ilina EI, Reichel SN, Löffler H, et al. Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Ann Neurol. 2014;75:382-94.
    • (2014) Ann Neurol , vol.75 , pp. 382-394
    • Orhan, G.1    Bock, M.2    Schepers, D.3    Ilina, E.I.4    Reichel, S.N.5    Löffler, H.6
  • 85
    • 84884165152 scopus 로고    scopus 로고
    • Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment
    • Baraban SC, Dinday MT, Hortopan GA. Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment. Nat Commun. 2013;4:2410.
    • (2013) Nat Commun , vol.4 , pp. 2410
    • Baraban, S.C.1    Dinday, M.T.2    Hortopan, G.A.3
  • 87
    • 84899753582 scopus 로고    scopus 로고
    • CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
    • Chenier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, et al. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J Neurodev Disord. 2014;6:9.
    • (2014) J Neurodev Disord , vol.6 , pp. 9
    • Chenier, S.1    Yoon, G.2    Argiropoulos, B.3    Lauzon, J.4    Laframboise, R.5    Ahn, J.W.6
  • 88
    • 18544364797 scopus 로고    scopus 로고
    • Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
    • Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002;31:184-9.
    • (2002) Nat Genet , vol.31 , pp. 184-189
    • Cossette, P.1    Liu, L.2    Brisebois, K.3    Dong, H.4    Lortie, A.5    Vanasse, M.6
  • 92
    • 84888218571 scopus 로고    scopus 로고
    • Two patients with a GRIN2A mutation and childhood-onset epilepsy
    • DeVries SP, Patel AD. Two patients with a GRIN2A mutation and childhood-onset epilepsy. Pediatr Neurol. 2013;49:482-5.
    • (2013) Pediatr Neurol , vol.49 , pp. 482-485
    • DeVries, S.P.1    Patel, A.D.2
  • 94
    • 84883462975 scopus 로고    scopus 로고
    • GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
    • Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013;45:1061-6.
    • (2013) Nat Genet , vol.45 , pp. 1061-1066
    • Lesca, G.1    Rudolf, G.2    Bruneau, N.3    Lozovaya, N.4    Labalme, A.5    Boutry-Kryza, N.6
  • 95
    • 84904396149 scopus 로고    scopus 로고
    • FORGE Canada Consortium, et al. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
    • Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA. FORGE Canada Consortium, et al. Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation. Epilepsia. 2014;55:e75-9.
    • (2014) Epilepsia , vol.55 , pp. e75-e79
    • Venkateswaran, S.1    Myers, K.A.2    Smith, A.C.3    Beaulieu, C.L.4    Schwartzentruber, J.A.5
  • 97
    • 84930387639 scopus 로고    scopus 로고
    • Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study
    • Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, et al. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet. 2015;88:34-40.
    • (2015) Clin Genet , vol.88 , pp. 34-40
    • Dyment, D.A.1    Tétreault, M.2    Beaulieu, C.L.3    Hartley, T.4    Ferreira, P.5    Chardon, J.W.6
  • 98
    • 84894060054 scopus 로고    scopus 로고
    • GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy
    • Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, et al. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol. 2014;75:147-54.
    • (2014) Ann Neurol , vol.75 , pp. 147-154
    • Lemke, J.R.1    Hendrickx, R.2    Geider, K.3    Laube, B.4    Schwake, M.5    Harvey, R.J.6
  • 99
    • 84930937943 scopus 로고    scopus 로고
    • De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
    • Syrbe S, Hedrich UB, Riesch E, Djémié T, Müller S, Møller RS, et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet. 2015;47:393-9.
    • (2015) Nat Genet , vol.47 , pp. 393-399
    • Syrbe, S.1    Hedrich, U.B.2    Riesch, E.3    Djémié, T.4    Müller, S.5    Møller, R.S.6
  • 102
    • 0344012023 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum
    • Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, et al. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. Brain. 2003;126:2726-37.
    • (2003) Brain , vol.126 , pp. 2726-2737
    • Singh, N.A.1    Westenskow, P.2    Charlier, C.3    Pappas, C.4    Leslie, J.5    Dillon, J.6
  • 103
    • 84888219819 scopus 로고    scopus 로고
    • Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients
    • Weckhuysen S, Ivanovic V, Hendrickx R, Van Coster R, Hjalgrim H, Møller RS, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81:1697-703.
    • (2013) Neurology , vol.81 , pp. 1697-1703
    • Weckhuysen, S.1    Ivanovic, V.2    Hendrickx, R.3    Coster, R.4    Hjalgrim, H.5    Møller, R.S.6
  • 105
    • 84868196552 scopus 로고    scopus 로고
    • Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
    • Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012;44:1188-90.
    • (2012) Nat Genet , vol.44 , pp. 1188-1190
    • Heron, S.E.1    Smith, K.R.2    Bahlo, M.3    Nobili, L.4    Kahana, E.5    Licchetta, L.6
  • 106
    • 84885425279 scopus 로고    scopus 로고
    • A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy
    • Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, et al. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene. 2013;531:467-71.
    • (2013) Gene , vol.531 , pp. 467-471
    • Ishii, A.1    Shioda, M.2    Okumura, A.3    Kidokoro, H.4    Sakauchi, M.5    Shimada, S.6
  • 107
    • 84876723381 scopus 로고    scopus 로고
    • Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
    • McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, et al. Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum. Brain. 2013;136:1578-91.
    • (2013) Brain , vol.136 , pp. 1578-1591
    • McTague, A.1    Appleton, R.2    Avula, S.3    Cross, J.H.4    King, M.D.5    Jacques, T.S.6
  • 108
    • 84927771862 scopus 로고    scopus 로고
    • De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders
    • Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, et al. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J Child Neurol. 2014;29:NP202-6.
    • (2014) J Child Neurol , vol.29 , pp. NP202-NP206
    • Vaher, U.1    Nõukas, M.2    Nikopensius, T.3    Kals, M.4    Annilo, T.5    Nelis, M.6
  • 109
    • 84883759326 scopus 로고    scopus 로고
    • De novo mutations in GNAO1, encoding a Gaαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy
    • Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, et al. De novo mutations in GNAO1, encoding a Gaαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy. Am J Hum Genet. 2013;93:496-505.
    • (2013) Am J Hum Genet , vol.93 , pp. 496-505
    • Nakamura, K.1    Kodera, H.2    Akita, T.3    Shiina, M.4    Kato, M.5    Hoshino, H.6
  • 110
    • 84873099026 scopus 로고    scopus 로고
    • Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency
    • Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, et al. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat. 2013;34:385-94.
    • (2013) Hum Mutat , vol.34 , pp. 385-394
    • Berryer, M.H.1    Hamdan, F.F.2    Klitten, L.L.3    Møller, R.S.4    Carmant, L.5    Schwartzentruber, J.6
  • 112
    • 84878458379 scopus 로고    scopus 로고
    • TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
    • Afawi Z, Mandelstam S, Korczyn AD, Kivity S, Walid S, Shalata A, et al. TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. Epilepsy Res. 2013;105:240-4.
    • (2013) Epilepsy Res , vol.105 , pp. 240-244
    • Afawi, Z.1    Mandelstam, S.2    Korczyn, A.D.3    Kivity, S.4    Walid, S.5    Shalata, A.6
  • 113
    • 77956394126 scopus 로고    scopus 로고
    • A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
    • Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet. 2010;87:371-5.
    • (2010) Am J Hum Genet , vol.87 , pp. 371-375
    • Corbett, M.A.1    Bahlo, M.2    Jolly, L.3    Afawi, Z.4    Gardner, A.E.5    Oliver, K.L.6
  • 114
    • 77956361137 scopus 로고    scopus 로고
    • TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
    • Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri TD, et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet. 2010;87:365-70.
    • (2010) Am J Hum Genet , vol.87 , pp. 365-370
    • Falace, A.1    Filipello, F.2    Padula, V.3    Vanni, N.4    Madia, F.5    Pietri, T.D.6
  • 115
    • 84874779755 scopus 로고    scopus 로고
    • TBC1D24 truncating mutation resulting in severe neurodegeneration
    • Guven A, Tolun A. TBC1D24 truncating mutation resulting in severe neurodegeneration. J Med Genet. 2013;50:199-202.
    • (2013) J Med Genet , vol.50 , pp. 199-202
    • Guven, A.1    Tolun, A.2
  • 116
    • 84878122558 scopus 로고    scopus 로고
    • Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
    • Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, et al. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat. 2013;34:869-72.
    • (2013) Hum Mutat , vol.34 , pp. 869-872
    • Milh, M.1    Falace, A.2    Villeneuve, N.3    Vanni, N.4    Cacciagli, P.5    Assereto, S.6
  • 117
    • 84924308872 scopus 로고    scopus 로고
    • Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability
    • Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, et al. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. Epilepsy Res. 2015;111:72-7.
    • (2015) Epilepsy Res , vol.111 , pp. 72-77
    • Poulat, A.L.1    Ville, D.2    Bellescize, J.3    André-Obadia, N.4    Cacciagli, P.5    Milh, M.6
  • 118
    • 84923193188 scopus 로고    scopus 로고
    • Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations
    • Strazisar BG, Neubauer D, Paro Panjan D, Writzl K. Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. Eur J Paediatr Neurol. 2015;19:251-6.
    • (2015) Eur J Paediatr Neurol , vol.19 , pp. 251-256
    • Strazisar, B.G.1    Neubauer, D.2    Paro Panjan, D.3    Writzl, K.4
  • 120
    • 84903991624 scopus 로고    scopus 로고
    • Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life
    • Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, et al. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. Am J Hum Genet. 2014;95:113-20.
    • (2014) Am J Hum Genet , vol.95 , pp. 113-120
    • Thevenon, J.1    Milh, M.2    Feillet, F.3    St-Onge, J.4    Duffourd, Y.5    Jugé, C.6
  • 122
    • 70349997517 scopus 로고    scopus 로고
    • Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts
    • Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, et al. Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet. 2009;76:188-94.
    • (2009) Clin Genet , vol.76 , pp. 188-194
    • Molinari, F.1    Kaminska, A.2    Fiermonte, G.3    Boddaert, N.4    Raas-Rothschild, A.5    Plouin, P.6
  • 125
    • 84887612319 scopus 로고    scopus 로고
    • De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy
    • Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, et al. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat. 2013;34:1708-14.
    • (2013) Hum Mutat , vol.34 , pp. 1708-1714
    • Kodera, H.1    Nakamura, K.2    Osaka, H.3    Maegaki, Y.4    Haginoya, K.5    Mizumoto, S.6
  • 126
    • 84875964804 scopus 로고    scopus 로고
    • Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation
    • Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013;92:632-6.
    • (2013) Am J Hum Genet , vol.92 , pp. 632-636
    • Ng, B.G.1    Buckingham, K.J.2    Raymond, K.3    Kircher, M.4    Turner, E.H.5    He, M.6
  • 127
    • 85047688256 scopus 로고    scopus 로고
    • NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
    • Alazami AM, Hijazi H, Kentab AY, Alkuraya FS. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. J Med Genet. 2014;51:224-8.
    • (2014) J Med Genet , vol.51 , pp. 224-228
    • Alazami, A.M.1    Hijazi, H.2    Kentab, A.Y.3    Alkuraya, F.S.4
  • 128
    • 84925949226 scopus 로고    scopus 로고
    • Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability
    • Rohena L, Neidich J, Truitt Cho M, Gonzalez KD, Tang S, Devinsky O, et al. Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability. Rare Dis. 2013;1:e26314.
    • (2013) Rare Dis , vol.1 , pp. e26314
    • Rohena, L.1    Neidich, J.2    Truitt Cho, M.3    Gonzalez, K.D.4    Tang, S.5    Devinsky, O.6
  • 129
    • 84911948736 scopus 로고    scopus 로고
    • Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
    • Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, et al. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014;46:1327-32.
    • (2014) Nat Genet , vol.46 , pp. 1327-1332
    • Schubert, J.1    Siekierska, A.2    Langlois, M.3    May, P.4    Huneau, C.5    Becker, F.6
  • 130
    • 77957945296 scopus 로고    scopus 로고
    • Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
    • Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology. 2010;75:1159-65.
    • (2010) Neurology , vol.75 , pp. 1159-1165
    • Deprez, L.1    Weckhuysen, S.2    Holmgren, P.3    Suls, A.4    Dyck, T.5    Goossens, D.6
  • 133
    • 84878190539 scopus 로고    scopus 로고
    • Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy
    • Mastrangelo M, Peron A, Spaccini L, Novara F, Scelsa B, Introvini P, et al. Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy. Epileptic Disord. 2013;15:55-61.
    • (2013) Epileptic Disord , vol.15 , pp. 55-61
    • Mastrangelo, M.1    Peron, A.2    Spaccini, L.3    Novara, F.4    Scelsa, B.5    Introvini, P.6
  • 135
    • 78650017215 scopus 로고    scopus 로고
    • STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-result of Japanese cohort study
    • Otsuka M, Oguni H, Liang JS, Ikeda H, Imai K, Hirasawa K, et al. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-result of Japanese cohort study. Epilepsia. 2010;51:2449-52.
    • (2010) Epilepsia , vol.51 , pp. 2449-2452
    • Otsuka, M.1    Oguni, H.2    Liang, J.S.3    Ikeda, H.4    Imai, K.5    Hirasawa, K.6
  • 136
    • 44349096827 scopus 로고    scopus 로고
    • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
    • Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40:782-8.
    • (2008) Nat Genet , vol.40 , pp. 782-788
    • Saitsu, H.1    Kato, M.2    Mizuguchi, T.3    Hamada, K.4    Osaka, H.5    Tohyama, J.6
  • 137
    • 78650006703 scopus 로고    scopus 로고
    • STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern
    • Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. Epilepsia. 2010;51:2397-405.
    • (2010) Epilepsia , vol.51 , pp. 2397-2405
    • Saitsu, H.1    Kato, M.2    Okada, I.3    Orii, K.E.4    Higuchi, T.5    Hoshino, H.6
  • 138
  • 139
    • 84892714706 scopus 로고    scopus 로고
    • The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
    • Abdel-Salam G, Thoenes M, Afifi HH, Körber F, Swan D, Bolz HJ. The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J Rare Dis. 2014;9:12.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 12
    • Abdel-Salam, G.1    Thoenes, M.2    Afifi, H.H.3    Körber, F.4    Swan, D.5    Bolz, H.J.6
  • 140
    • 84938842053 scopus 로고    scopus 로고
    • A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy
    • Ben-Salem S, Al-Shamsi AM, John A, Ali BR, Al-Gazali L. A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy. J Mol Neurosci. 2015;56:17-23.
    • (2015) J Mol Neurosci , vol.56 , pp. 17-23
    • Ben-Salem, S.1    Al-Shamsi, A.M.2    John, A.3    Ali, B.R.4    Al-Gazali, L.5
  • 141
    • 84893833543 scopus 로고    scopus 로고
    • The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation
    • Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411-9.
    • (2014) Brain , vol.137 , pp. 411-419
    • Mallaret, M.1    Synofzik, M.2    Lee, J.3    Sagum, C.A.4    Mahajnah, M.5    Sharkia, R.6
  • 142
    • 84963941031 scopus 로고    scopus 로고
    • WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
    • Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, et al. WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. J Med Genet. 2015;52:61-70.
    • (2015) J Med Genet , vol.52 , pp. 61-70
    • Mignot, C.1    Lambert, L.2    Pasquier, L.3    Bienvenu, T.4    Delahaye-Duriez, A.5    Keren, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.