메뉴 건너뛰기




Volumn 17, Issue 8, 2017, Pages 739-750

The role of genetic testing in epilepsy diagnosis and management

Author keywords

exome; Genetic counseling; genetic epilepsies; genome; idiopathic; metabolic epilepsies; microarray analysis; next generation sequencing; personalized medicine; precision medicine

Indexed keywords

ANTICONVULSIVE AGENT;

EID: 85022097373     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1080/14737159.2017.1335598     Document Type: Review
Times cited : (72)

References (103)
  • 1
    • 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, 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;51:676–685.• With this manuscript, the authors published genetic novelties in epilepsies, summarized important functional findings, or defined novel classifications for genetic epilepsies.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3
  • 2
    • 85014773832 scopus 로고    scopus 로고
    • ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology
    • Scheffer IE, Berkovic S, Capovilla G, et al. ILAE classification of the epilepsies:position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58:512–521.• With this manuscript the authors published genetic novelties in epilepsies, summarized important functional findings, or defined novel classifications for genetic epilepsies.
    • (2017) Epilepsia , vol.58 , pp. 512-521
    • Scheffer, I.E.1    Berkovic, S.2    Capovilla, G.3
  • 4
    • 0034957202 scopus 로고    scopus 로고
    • A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
    • Engel J, Jr, International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy:report of the ILAE Task Force on Classification and Terminology. Epilepsia. 2001;42:796–803.
    • (2001) Epilepsia , vol.42 , pp. 796-803
    • Engel, J.1
  • 5
    • 84874940821 scopus 로고    scopus 로고
    • Genetics of the epilepsies: where are we and where are we going?
    • Helbig I, Lowenstein DH., Genetics of the epilepsies:where are we and where are we going? Curr Opin Neurol. 2013;26:179–185.
    • (2013) Curr Opin Neurol , vol.26 , pp. 179-185
    • Helbig, I.1    Lowenstein, D.H.2
  • 6
    • 84876814506 scopus 로고    scopus 로고
    • Genetics of idiopathic epilepsies
    • Nabbout R, Scheffer IE. Genetics of idiopathic epilepsies. Handb Clin Neurol. 2013;111:567–578.
    • (2013) Handb Clin Neurol , vol.111 , pp. 567-578
    • Nabbout, R.1    Scheffer, I.E.2
  • 7
    • 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, 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.•• The reference is a clinical or genetic landmark for the field of genetic epilepsies.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3
  • 9
    • 0032536030 scopus 로고    scopus 로고
    • A potassium channel mutation in neonatal human epilepsy
    • Biervert C, Bc S, 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    Bc, S.2    Kubisch, C.3
  • 10
    • 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, 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
  • 11
    • 0031974209 scopus 로고    scopus 로고
    • A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
    • Charlier C, Singh NA, Ryan SG, 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
  • 12
    • 84866287779 scopus 로고    scopus 로고
    • PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS)
    • Schubert S, Paravidino R, Becker F, et al. PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS). Hum Mutat. 2012;33:1439–1443.
    • (2012) Hum Mutat , vol.33 , pp. 1439-1443
    • Schubert, S.1    Paravidino, R.2    Becker, F.3
  • 13
    • 84911948736 scopus 로고    scopus 로고
    • Mutations in STX1B encoding a presynaptic protein cause fever-associated epilepsy syndromes
    • Schubert S, Siekierska A, Langlois M, et al. Mutations in STX1B encoding a presynaptic protein cause fever-associated epilepsy syndromes. Nat Genet. 2014;46:1327–1332.
    • (2014) Nat Genet , vol.46 , pp. 1327-1332
    • Schubert, S.1    Siekierska, A.2    Langlois, M.3
  • 14
    • 67650090920 scopus 로고    scopus 로고
    • De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
    • Hamdan FF, Piton A, Gauthier J, et al. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. Ann Neurol. 2009;65:748–753.
    • (2009) Ann Neurol , vol.65 , pp. 748-753
    • Hamdan, F.F.1    Piton, A.2    Gauthier, J.3
  • 15
    • 70350075265 scopus 로고    scopus 로고
    • Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1
    • Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol. 2009;66:415–419.
    • (2009) Ann Neurol , vol.66 , pp. 415-419
    • Suls, A.1    Mullen, S.A.2    Weber, Y.G.3
  • 16
    • 20244367772 scopus 로고    scopus 로고
    • Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase
    • Mills PB, Surtees RA, Champion MP, et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5-prime-phosphate oxidase. Hum Molec Genet. 2005;14:1077–1086.
    • (2005) Hum Molec Genet , vol.14 , pp. 1077-1086
    • Mills, P.B.1    Surtees, R.A.2    Champion, M.P.3
  • 17
    • 0035030766 scopus 로고    scopus 로고
    • First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma-2-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 gamma-2-subunit gene. Nature Genet. 2001;28:46–48.
    • (2001) Nature Genet , vol.28 , pp. 46-48
    • Baulac, S.1    Huberfeld, G.2    Gourfinkel-An, I.3
  • 18
    • 84883463114 scopus 로고    scopus 로고
    • Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
    • Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013;459:1067–1072.
    • (2013) Nat Genet , vol.459 , pp. 1067-1072
    • Lemke, J.R.1    Lal, D.2    Reinthaler, E.M.3
  • 19
    • 8844269073 scopus 로고    scopus 로고
    • Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
    • Weaving LS, Christodoulou J, Williamson SL, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004;75:1079–1093.
    • (2004) Am J Hum Genet , vol.75 , pp. 1079-1093
    • Weaving, L.S.1    Christodoulou, J.2    Williamson, S.L.3
  • 20
    • 8844252981 scopus 로고    scopus 로고
    • Author informationMutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
    • Tao J, Van Esch H, Hagedorn-Greiwe M, et al. Author informationMutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet. 2004;75:1149–1154.
    • (2004) Am J Hum Genet , vol.75 , pp. 1149-1154
    • Tao, J.1    Van Esch, H.2    Hagedorn-Greiwe, M.3
  • 21
    • 84890151248 scopus 로고    scopus 로고
    • EuroEPINOMICS RES Consortium. 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, et al. EuroEPINOMICS RES Consortium. 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;93:967–975.
    • (2013) Am J Hum Genet , vol.93 , pp. 967-975
    • Suls, A.1    Jaehn, J.A.2    Kecskés, A.3
  • 22
  • 23
    • 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
  • 24
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig I, Mefford HC, Sharp AJ, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009;41(2):160–162.•• The reference is a clinical or genetic landmark for the field of genetic epilepsies.
    • (2009) Nat Genet , vol.41 , Issue.2 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3
  • 25
    • 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, 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
    • De Kovel, C.G.1    Trucks, H.2    Helbig, I.3
  • 26
    • 84871340833 scopus 로고    scopus 로고
    • Genetic testing of epileptic encephalopathies of infancy: an approach
    • Sharma S, Prasad AN. Genetic testing of epileptic encephalopathies of infancy:an approach. Can J Neurol Sci. 2013;40:10–16.
    • (2013) Can J Neurol Sci , vol.40 , pp. 10-16
    • Sharma, S.1    Prasad, A.N.2
  • 27
    • 84984972724 scopus 로고    scopus 로고
    • Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
    • Helbig KL, Farwell Hagman KD, Shinde DN, et al. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genet Med. 2016;18:898–905.
    • (2016) Genet Med , vol.18 , pp. 898-905
    • Helbig, K.L.1    Farwell Hagman, K.D.2    Shinde, D.N.3
  • 28
    • 84872040514 scopus 로고    scopus 로고
    • Structural variation and medical genomics
    • Raphael BJ. Structural variation and medical genomics. Plos Comput Biol. 2012;8:e1002821.
    • (2012) Plos Comput Biol , vol.8 , pp. e1002821
    • Raphael, B.J.1
  • 29
    • 33751540343 scopus 로고    scopus 로고
    • Historical development of analysing large-scale changes in the human genome
    • Pearson PL. Historical development of analysing large-scale changes in the human genome. Cytogenet Genome Res. 2006;115:198–204.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 198-204
    • Pearson, P.L.1
  • 30
    • 84877999280 scopus 로고    scopus 로고
    • Molecular genetic testing and the future of clinical genomics
    • Katsanis SH, Katsanis N. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet. 2013;14:415–426.
    • (2013) Nat Rev Genet , vol.14 , pp. 415-426
    • Katsanis, S.H.1    Katsanis, N.2
  • 31
    • 84939635642 scopus 로고    scopus 로고
    • Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
    • Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis:results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17:578–586.
    • (2015) Genet Med , vol.17 , pp. 578-586
    • Farwell, K.D.1    Shahmirzadi, L.2    El-Khechen, D.3
  • 32
    • 84938743062 scopus 로고    scopus 로고
    • Summary of recommendations for the management of infantile seizures: task force report for the ILAE commission of pediatrics
    • Wilmshurst JM, Gaillard WD, Vinayan KP, et al. Summary of recommendations for the management of infantile seizures:task force report for the ILAE commission of pediatrics. Epilepsia. 2015;56:1185–1197.
    • (2015) Epilepsia , vol.56 , pp. 1185-1197
    • Wilmshurst, J.M.1    Gaillard, W.D.2    Vinayan, K.P.3
  • 33
    • 84945309670 scopus 로고    scopus 로고
    • Delivery of epilepsy care to adults with intellectual and developmental disabilities
    • Devinsky O, Asato M, Camfield P, et al. Delivery of epilepsy care to adults with intellectual and developmental disabilities. Neurology. 2015;85:1512–1521.
    • (2015) Neurology , vol.85 , pp. 1512-1521
    • Devinsky, O.1    Asato, M.2    Camfield, P.3
  • 34
    • 84958155351 scopus 로고    scopus 로고
    • Attitudes Toward Epilepsy Genetics Testing Among Adult and Pediatric Epileptologists-Results of a Q-PULSE Survey
    • Ferraro L. Pollard JR, Helbig I. Attitudes Toward Epilepsy Genetics Testing Among Adult and Pediatric Epileptologists-Results of a Q-PULSE Survey. Survey Epilepsy Curr. 2016;16:46–47.
    • (2016) Survey Epilepsy Curr , vol.16 , pp. 46-47
    • Ferraro, L.1    Pollard, J.R.2    Helbig, I.3
  • 35
    • 84992195144 scopus 로고    scopus 로고
    • Diagnostic yield of epilepsy panels in children with medication-refractory epilepsy
    • Segal E, Pedro H, Valdez-Gonzalez K, et al. Diagnostic yield of epilepsy panels in children with medication-refractory epilepsy. Pediatr Neurol. 2016;64:66–71.
    • (2016) Pediatr Neurol , vol.64 , pp. 66-71
    • Segal, E.1    Pedro, H.2    Valdez-Gonzalez, K.3
  • 36
    • 84928209346 scopus 로고    scopus 로고
    • ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S, et al. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424.
    • (2015) Genet Med , vol.17 , pp. 405-424
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 37
    • 84941877741 scopus 로고    scopus 로고
    • GeneMatcher: a matching tool for connecting investigators with an interest in the same gene
    • Sobreira N, Schiettecatte F, Valle D, et al. GeneMatcher:a matching tool for connecting investigators with an interest in the same gene. Hum Mutat. 2015;36:928–930.
    • (2015) Hum Mutat , vol.36 , pp. 928-930
    • Sobreira, N.1    Schiettecatte, F.2    Valle, D.3
  • 38
    • 85021936924 scopus 로고    scopus 로고
    • Website aims to accelerate gene discovery, diagnosis, treatment: myGene2.org fosters open sharing among families, researchers, and clinicians
    • Levenson D. Website aims to accelerate gene discovery, diagnosis, treatment:myGene2.org fosters open sharing among families, researchers, and clinicians. Am J Med Genet A. 2016;170:1388–1389.
    • (2016) Am J Med Genet A , vol.170 , pp. 1388-1389
    • Levenson, D.1
  • 39
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • Allen AS, Berkovic SF, Cossette P, et al.; Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–221.• With this manuscript, the authors published genetic novelties in epilepsies, summarized important functional findings, or defined novel classifications for genetic epilepsies.
    • (2013) Nature , vol.501 , pp. 217-221
    • Allen, A.S.1    Berkovic, S.F.2    Cossette, P.3
  • 40
    • 84977079621 scopus 로고    scopus 로고
    • Mosaic mutations in early-onset genetic diseases
    • Halvorsen M, Petrovski S, Shellhaas R, et al. Mosaic mutations in early-onset genetic diseases. Genet Med. 2016;18:746–749.
    • (2016) Genet Med , vol.18 , pp. 746-749
    • Halvorsen, M.1    Petrovski, S.2    Shellhaas, R.3
  • 41
    • 84938962593 scopus 로고    scopus 로고
    • Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with dravet syndrome
    • Xu X, Yang X, Wu Q, et al. Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with dravet syndrome. Hum Mutat. 2015;36:861–872.
    • (2015) Hum Mutat , vol.36 , pp. 861-872
    • Xu, X.1    Yang, X.2    Wu, Q.3
  • 42
    • 85011835129 scopus 로고    scopus 로고
    • Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
    • Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0):a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–255.
    • (2017) Genet Med , vol.19 , pp. 249-255
    • Kalia, S.S.1    Adelman, K.2    Bale, S.J.3
  • 43
    • 84885295208 scopus 로고    scopus 로고
    • Actionable, pathogenic incidental findings in 1,000 participants’ exomes
    • Dorschner MO, Amendola LM, Turner EH, et al. Actionable, pathogenic incidental findings in 1,000 participants’ exomes. Am J Hum Genet. 2013;93:631–640.
    • (2013) Am J Hum Genet , vol.93 , pp. 631-640
    • Dorschner, M.O.1    Amendola, L.M.2    Turner, E.H.3
  • 44
    • 84925532923 scopus 로고    scopus 로고
    • Is it going to hurt?”: the impact of the diagnostic odyssey on children and their families
    • Carmichael N, Tsipis J, Windmueller G, et al. “Is it going to hurt?”:the impact of the diagnostic odyssey on children and their families. J Genet Couns. 2015;24:325–335.
    • (2015) J Genet Couns , vol.24 , pp. 325-335
    • Carmichael, N.1    Tsipis, J.2    Windmueller, G.3
  • 45
    • 84957656120 scopus 로고    scopus 로고
    • Not the end of the odyssey: parental perceptions of Whole Exome Sequencing (WES) in pediatric undiagnosed disorders
    • Rosell AM, Pena LD, Schoch K, et al. Not the end of the odyssey:parental perceptions of Whole Exome Sequencing (WES) in pediatric undiagnosed disorders. J Genet Couns. 2016;25:1019–1031.
    • (2016) J Genet Couns , vol.25 , pp. 1019-1031
    • Rosell, A.M.1    Pena, L.D.2    Schoch, K.3
  • 46
    • 33744811658 scopus 로고    scopus 로고
    • A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy
    • Maljevic S, Krampfl K, Cobilanschi J, et al. A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006;59:983–987.
    • (2006) Ann Neurol , vol.59 , pp. 983-987
    • Maljevic, S.1    Krampfl, K.2    Cobilanschi, J.3
  • 47
    • 0030943313 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes
    • Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus:a genetic disorder with heterogeneous clinical phenotypes. Brain. 1997;120:479–490.
    • (1997) Brain , vol.120 , pp. 479-490
    • Scheffer, I.E.1    Berkovic, S.F.2
  • 48
    • 17344367657 scopus 로고    scopus 로고
    • Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B
    • Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 1198;19:366–370.
    • Nat Genet , vol.19 , pp. 366-370
    • Wallace, R.H.1    Wang, D.W.2    Singh, R.3
  • 50
    • 64449088896 scopus 로고    scopus 로고
    • Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?
    • Scheffer IE, Zhang YH, Jansen FE, et al. Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev. 2009;31:394–400.
    • (2009) Brain Dev , vol.31 , pp. 394-400
    • Scheffer, I.E.1    Zhang, Y.H.2    Jansen, F.E.3
  • 51
    • 84858120198 scopus 로고    scopus 로고
    • GLUT1-mutations are a rare cause of familial idiopathic generalized epilepsy
    • Striano P, Weber YG, Toliat MR, et al. GLUT1-mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology. 2012;78:557–562.
    • (2012) Neurology , vol.78 , pp. 557-562
    • Striano, P.1    Weber, Y.G.2    Toliat, M.R.3
  • 52
    • 3242701298 scopus 로고    scopus 로고
    • A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation
    • Borgatti R, Zucca C, Cavallini A, et al. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurol. 2004;63:57–65.
    • (2004) Neurol , vol.63 , pp. 57-65
    • Borgatti, R.1    Zucca, C.2    Cavallini, A.3
  • 53
    • 0033868150 scopus 로고    scopus 로고
    • Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies
    • Swoboda KJ, Soong B-W, McKenna C, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions:clinical and linkage studies. Neurology. 2000;55:224–230.
    • (2000) Neurology , vol.55 , pp. 224-230
    • Swoboda, K.J.1    Soong, B.-W.2    McKenna, C.3
  • 54
    • 27644518764 scopus 로고    scopus 로고
    • Pathways modulating neural KCNQ/M (Kv7) potassium channels
    • Delmas P, Brown DA. Pathways modulating neural KCNQ/M (Kv7) potassium channels. Nat Rev Neurosci. 2005;6:850–862.
    • (2005) Nat Rev Neurosci , vol.6 , pp. 850-862
    • Delmas, P.1    Brown, D.A.2
  • 56
    • 0037077834 scopus 로고    scopus 로고
    • Sodium-channel defects in benign familial neonatal-infantile seizures
    • Heron SE, Crossland KM, 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
  • 57
    • 33749515473 scopus 로고    scopus 로고
    • Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures
    • Scalmani P, Rusconi R, Armatura E, et al. Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. J Neurosci. 2006;26:10100–10109.
    • (2006) J Neurosci , vol.26 , pp. 10100-10109
    • Scalmani, P.1    Rusconi, R.2    Armatura, E.3
  • 59
    • 84884335611 scopus 로고    scopus 로고
    • PRRT2-related disorders: further PKD and ICCA cases and review of the literature
    • Becker F, Schubert J, Striano P, et al. PRRT2-related disorders:further PKD and ICCA cases and review of the literature. J Neurol. 2013;260:1234–1244.
    • (2013) J Neurol , vol.260 , pp. 1234-1244
    • Becker, F.1    Schubert, J.2    Striano, P.3
  • 60
    • 84960424771 scopus 로고    scopus 로고
    • Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
    • Gardella E, Becker F, Møller RS, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016;79:428–436.
    • (2016) Ann Neurol , vol.79 , pp. 428-436
    • Gardella, E.1    Becker, F.2    Møller, R.S.3
  • 61
    • 84925375639 scopus 로고    scopus 로고
    • Euro EPINOMICS RES Consortium CRP. The phenotypic spectrum of SCN8A encephalopathy
    • Larsen J, Carvill GL, Gardella E, et al. Euro EPINOMICS RES Consortium CRP. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015;84:480–489.
    • (2015) Neurology , vol.84 , pp. 480-489
    • Larsen, J.1    Carvill, G.L.2    Gardella, E.3
  • 62
    • 0003264084 scopus 로고
    • Benign idiopathic neonatal convulsions (familial and non-familial): open questions about these syndromes
    • Wolf P., (ed), London: John Libbey & Co
    • Plouin P. Benign idiopathic neonatal convulsions (familial and non-familial):open questions about these syndromes. In:Wolf P, Ed. Epileptic seizures and syndromes. London:John Libbey & Co; 1994. p. 193–201.
    • (1994) Epileptic seizures and syndromes , pp. 193-201
    • Plouin, P.1
  • 63
    • 3042594704 scopus 로고    scopus 로고
    • Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families
    • Weber YG, Berger A, Bebek N, et al. Benign familial infantile convulsions:linkage to chromosome 16p12-q12 in 14 families. Epilepsia. 2004;45:601–609.
    • (2004) Epilepsia , vol.45 , pp. 601-609
    • Weber, Y.G.1    Berger, A.2    Bebek, N.3
  • 64
    • 84902273128 scopus 로고    scopus 로고
    • DEPDC5 mutations in genetic focal epilepsies of childhood
    • Lal D, Reinthaler EM, Schubert J, et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014;75:788–792.
    • (2014) Ann Neurol , vol.75 , pp. 788-792
    • Lal, D.1    Reinthaler, E.M.2    Schubert, J.3
  • 65
    • 84878357685 scopus 로고    scopus 로고
    • A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1
    • Bar-Peled L, Chantranupong L, Cherniack AD, et al. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science. 2013;340:1100–1106.
    • (2013) Science , vol.340 , pp. 1100-1106
    • Bar-Peled, L.1    Chantranupong, L.2    Cherniack, A.D.3
  • 66
    • 84884889883 scopus 로고    scopus 로고
    • SEACing the GAP that nEGOCiates TORC1 activation: evolutionary conservation of Rag GTPase regulation
    • Panchaud N, Péli-Gulli MP, De Virgilio C. SEACing the GAP that nEGOCiates TORC1 activation:evolutionary conservation of Rag GTPase regulation. Cell Cycle. 2013;12:2948–2952.
    • (2013) Cell Cycle , vol.12 , pp. 2948-2952
    • Panchaud, N.1    Péli-Gulli, M.P.2    De Virgilio, C.3
  • 67
    • 84920141663 scopus 로고    scopus 로고
    • Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation
    • Lasarge CL, Danzer SC. Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. Front Mol Neurosci. 2014;7:18.
    • (2014) Front Mol Neurosci , vol.7 , pp. 18
    • Lasarge, C.L.1    Danzer, S.C.2
  • 68
    • 85011270516 scopus 로고    scopus 로고
    • Focal cortical dysplasia: gene mutations, cell signaling, and therapeutic implications
    • Iffland PH, 2nd, Crino PB. Focal cortical dysplasia:gene mutations, cell signaling, and therapeutic implications. Annu Rev Pathol. 2017;12:547–571.
    • (2017) Annu Rev Pathol , vol.12 , pp. 547-571
    • Iffland, P.H.1    Crino, P.B.2
  • 69
    • 0031649494 scopus 로고    scopus 로고
    • Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14
    • Neubauer BA, Fiedler B, Himmelein B, et al. Centrotemporal spikes in families with rolandic epilepsy:linkage to chromosome 15q14. Neurology. 1998;51:1608–1612.
    • (1998) Neurology , vol.51 , pp. 1608-1612
    • Neubauer, B.A.1    Fiedler, B.2    Himmelein, B.3
  • 70
    • 84878352545 scopus 로고    scopus 로고
    • Mutations in DEPDC5 cause familial focal epilepsy with variable foci
    • Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet. 2013;45:546–551.
    • (2013) Nat Genet , vol.45 , pp. 546-551
    • Dibbens, L.M.1    de Vries, B.2    Donatello, S.3
  • 71
    • 84878366242 scopus 로고    scopus 로고
    • Mutations of DEPDC5 cause autosomal dominant focal epilepsies
    • Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013;45:552–555.
    • (2013) Nat Genet , vol.45 , pp. 552-555
    • Ishida, S.1    Picard, F.2    Rudolf, G.3
  • 72
    • 85046981886 scopus 로고    scopus 로고
    • Epilepsy with auditory features: a heterogeneous clinico-molecular disease
    • Pippucci T, Licchetta L, Baldassari S, et al. Epilepsy with auditory features:a heterogeneous clinico-molecular disease. Neurol Genet. 2015;1:e5.
    • (2015) Neurol Genet , vol.1 , pp. e5
    • Pippucci, T.1    Licchetta, L.2    Baldassari, S.3
  • 73
    • 85012104030 scopus 로고    scopus 로고
    • Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy
    • Møller RS, Weckhuysen S, Chipaux M, et al. Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet. 2016;2:e118.
    • (2016) Neurol Genet , vol.2 , pp. e118
    • Møller, R.S.1    Weckhuysen, S.2    Chipaux, M.3
  • 74
    • 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
  • 75
    • 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
  • 76
    • 1842580632 scopus 로고    scopus 로고
    • LGI1 mutations in autosomal dominant partial epilepsy with auditory features
    • Ottman R, Winawer MR, Kalachikov S, et al. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology. 2004;62:1120–1126.
    • (2004) Neurology , vol.62 , pp. 1120-1126
    • Ottman, R.1    Winawer, M.R.2    Kalachikov, S.3
  • 77
    • 2342598414 scopus 로고    scopus 로고
    • Genetic mechanisms that underlie epilepsy
    • Steinlein OK. Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci. 2004;5:443–448.
    • (2004) Nat Rev Neurosci , vol.5 , pp. 443-448
    • Steinlein, O.K.1
  • 78
    • 15744368453 scopus 로고    scopus 로고
    • Ion channel defects in idiopathic epilepsies
    • Lerche H, Weber YG, Jurkat-Rott K, et al. Ion channel defects in idiopathic epilepsies. Curr Pharm. 2005;11:2737–2752.
    • (2005) Curr Pharm , vol.11 , pp. 2737-2752
    • Lerche, H.1    Weber, Y.G.2    Jurkat-Rott, K.3
  • 79
    • 77951656572 scopus 로고    scopus 로고
    • Genetic testing in the epilepsies–report of the ILAE genetics commission
    • Ottman R, Hirose S, Jain S, et al. Genetic testing in the epilepsies–report of the ILAE genetics commission. Epilepsia. 2010;51:655–670.•• The reference is a clinical or genetic landmark for the field of genetic epilepsies.
    • (2010) Epilepsia , vol.51 , pp. 655-670
    • Ottman, R.1    Hirose, S.2    Jain, S.3
  • 80
    • 84929517245 scopus 로고    scopus 로고
    • Early and effective treatment of KCNQ2 encephalopathy
    • Pisano T, Numis AL, Heavin SB, et al. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015;56:685–691.
    • (2015) Epilepsia , vol.56 , pp. 685-691
    • Pisano, T.1    Numis, A.L.2    Heavin, S.B.3
  • 81
    • 84867288989 scopus 로고    scopus 로고
    • Early-onset epileptic encephalopathies: ohtahara syndrome and early myoclonic encephalopathy
    • Beal JC, Cherian K, Moshe SL. Early-onset epileptic encephalopathies:ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol. 2012;47:317–323.
    • (2012) Pediatr Neurol , vol.47 , pp. 317-323
    • Beal, J.C.1    Cherian, K.2    Moshe, S.L.3
  • 82
    • 84865590301 scopus 로고    scopus 로고
    • Age-related epileptic encephalopathies
    • Guerrini R, Pellock JM. Age-related epileptic encephalopathies. Handb Clin Neurol. 2012;107:179–193.
    • (2012) Handb Clin Neurol , vol.107 , pp. 179-193
    • Guerrini, R.1    Pellock, J.M.2
  • 83
    • 0001665187 scopus 로고    scopus 로고
    • Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy
    • Stromme P, Mangelsdorf ME, Shaw MA, et al. Mutations in the human ortholog of aristaless cause X-linked mental retardation and epilepsy. Nature Genet. 2002;30:441–445.
    • (2002) Nature Genet , vol.30 , pp. 441-445
    • Stromme, P.1    Mangelsdorf, M.E.2    Shaw, M.A.3
  • 84
    • 27144463130 scopus 로고    scopus 로고
    • Early onset seizures and Rett-like features associated with mutations in CDKL5
    • Evans JC, Archer HL, Colley JP, et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005;13:1113–1120.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1113-1120
    • Evans, J.C.1    Archer, H.L.2    Colley, J.P.3
  • 85
    • 56049110230 scopus 로고    scopus 로고
    • Identification of Arx transcriptional targets in the developing basal forebrain
    • Fulp CT, Cho G, Marsh ED, et al. Identification of Arx transcriptional targets in the developing basal forebrain. Hum Mol Genet. 2008;17:3740–3760.
    • (2008) Hum Mol Genet , vol.17 , pp. 3740-3760
    • Fulp, C.T.1    Cho, G.2    Marsh, E.D.3
  • 86
    • 0036844387 scopus 로고    scopus 로고
    • Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    • Kitamura K, Yanazawa M, Sugiyama N, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002;32:359–369.
    • (2002) Nat Genet , vol.32 , pp. 359-369
    • Kitamura, K.1    Yanazawa, M.2    Sugiyama, N.3
  • 87
    • 84876794608 scopus 로고    scopus 로고
    • Malignant migrating partial seizures in infancy
    • Coppola G. Malignant migrating partial seizures in infancy. Handb Clin Neurol. 2013;111:605–609.
    • (2013) Handb Clin Neurol , vol.111 , pp. 605-609
    • Coppola, G.1
  • 88
    • 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, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012;44:1255–1259.
    • (2012) Nat Genet , vol.44 , pp. 1255-1259
    • Barcia, G.1    Fleming, M.R.2    Deligniere, A.3
  • 89
    • 84899952041 scopus 로고    scopus 로고
    • KCNT1 of function in 2 epilepsy phenotypes is reversed by quinidine
    • Milligan CJ, Li M, Gazina EV, Heron SE, et al. KCNT1 of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol. 2014;75:581–590.
    • (2014) Ann Neurol , vol.75 , pp. 581-590
    • Milligan, C.J.1    Li, M.2    Gazina, E.V.3    Heron, S.E.4
  • 90
    • 84943000123 scopus 로고    scopus 로고
    • Quinidine in the treatment of KCNT1-positive epilepsies
    • Mikati MA, Jiang YH, Carboni M, et al. Quinidine in the treatment of KCNT1-positive epilepsies. Ann Neurol. 2015;78:995–999.
    • (2015) Ann Neurol , vol.78 , pp. 995-999
    • Mikati, M.A.1    Jiang, Y.H.2    Carboni, M.3
  • 91
    • 0000737282 scopus 로고
    • Les epilepsies graves de l’enfant
    • Dravet C. Les epilepsies graves de l’enfant. Vie Med. 1978;8:543–548.•• The reference is a clinical or genetic landmark for the field of genetic epilepsies.
    • (1978) Vie Med , vol.8 , pp. 543-548
    • Dravet, C.1
  • 92
    • 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.• With this manuscript, the authors published genetic novelties in epilepsies, summarized important functional findings, or defined novel classifications for genetic epilepsies.
    • (2001) Am J Hum Genet , vol.68 , pp. 1327-1332
    • Claes, L.1    Del-Favero, J.2    Ceulemans, B.3
  • 93
    • 84873708403 scopus 로고    scopus 로고
    • Ion channels in genetic and acquired forms of epilepsy
    • Lerche H, Shah M, Beck H, et al. Ion channels in genetic and acquired forms of epilepsy. J Physiol. 2013;591:753–764.
    • (2013) J Physiol , vol.591 , pp. 753-764
    • Lerche, H.1    Shah, M.2    Beck, H.3
  • 94
    • 0031947590 scopus 로고    scopus 로고
    • Lamotrigine and seizure aggravation in severe myoclonic epilepsy
    • Guerrini R, Dravet C, Genton P, et al. Lamotrigine and seizure aggravation in severe myoclonic epilepsy. Epilepsia. 1998;39:508–512.
    • (1998) Epilepsia , vol.39 , pp. 508-512
    • Guerrini, R.1    Dravet, C.2    Genton, P.3
  • 95
    • 84929264219 scopus 로고    scopus 로고
    • Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
    • Carvill GL, McMahon JM, Schneider A, et al., EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures. Am J Hum Genet. 2015;96:808–815.
    • (2015) Am J Hum Genet , vol.96 , pp. 808-815
    • Carvill, G.L.1    McMahon, J.M.2    Schneider, A.3
  • 96
    • 80052699025 scopus 로고    scopus 로고
    • Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy
    • Mullen SA, Marini C, Suls A, et al. Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol. 2011;68:1152–1155.
    • (2011) Arch Neurol , vol.68 , pp. 1152-1155
    • Mullen, S.A.1    Marini, C.2    Suls, A.3
  • 97
    • 46849102968 scopus 로고    scopus 로고
    • Suls A, Dedeken P, Goffin H, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter Glut1. Brain. 2008;131:1831-1844.
  • 98
    • 17344367164 scopus 로고    scopus 로고
    • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
    • Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet. 1998;18:188–191.
    • (1998) Nat Genet , vol.18 , pp. 188-191
    • Seidner, G.1    Alvarez, M.G.2    Yeh, J.I.3
  • 99
    • 45749108564 scopus 로고    scopus 로고
    • GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
    • Weber YG, Storch A, Wuttke TV, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Investig. 2008;118:2157–2168.
    • (2008) J Clin Investig , vol.118 , pp. 2157-2168
    • Weber, Y.G.1    Storch, A.2    Wuttke, T.V.3
  • 100
    • 33644821320 scopus 로고    scopus 로고
    • Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    • Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med. 2006;12:307–309.
    • (2006) Nat Med , vol.12 , pp. 307-309
    • Mills, P.B.1    Struys, E.2    Jakobs, C.3
  • 101
    • 84930937943 scopus 로고    scopus 로고
    • De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
    • Syrbe S, Hedrich UB, Riesch E, et al. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet. 2015;47:393–399.
    • (2015) Nat Genet , vol.47 , pp. 393-399
    • Syrbe, S.1    Hedrich, U.B.2    Riesch, E.3
  • 102
    • 84894060054 scopus 로고    scopus 로고
    • GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy
    • Lemke JR, Hendrick R, Geider K, et al. GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol. 2014;75:147–154.
    • (2014) Ann Neurol , vol.75 , pp. 147-154
    • Lemke, J.R.1    Hendrick, R.2    Geider, K.3
  • 103
    • 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;78:323–328• With this manuscript, the authors published genetic novelties in epilepsies, summarized important functional findings, or defined novel classifications for genetic epilepsies.
    • (2015) Ann Neurol , vol.78 , pp. 323-328


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.