-
1
-
-
77950857874
-
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
-
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
-
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
-
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
-
7
-
-
0028980028
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
23
-
-
18544364797
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
|