-
1
-
-
0030317076
-
Descriptive epidemiology of epilepsy: Contributions of population-based studies from Rochester, Minnesota
-
Hauser WA, Annegers JF, Rocca WA. Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota. Mayo Clin Proc. 1996;71:576-586.
-
(1996)
Mayo Clin Proc.
, vol.71
, pp. 576-586
-
-
Hauser, W.A.1
Annegers, J.F.2
Rocca, W.A.3
-
2
-
-
78751607023
-
Estimating risk for developing epilepsy: A population-based study in Rochester, Minnesota
-
Hesdorffer DC, Logroscino G, Benn EK, et al. Estimating risk for developing epilepsy: A population-based study in Rochester, Minnesota. Neurology. 2011;76:23-27.
-
(2011)
Neurology.
, vol.76
, pp. 23-27
-
-
Hesdorffer, D.C.1
Logroscino, G.2
Benn, E.K.3
-
4
-
-
62149088190
-
Spectrum of SCN1A gene mutations associated with Dravet syndrome: Analysis of 333 patients
-
Depienne C, Trouillard O, Saint-Martin C, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: Analysis of 333 patients. J Med Genet. 2009;46:183-191.
-
(2009)
J Med Genet
, vol.46
, pp. 183-191
-
-
Depienne, C.1
Trouillard, O.2
Saint-Martin, C.3
-
6
-
-
84892754932
-
Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus
-
Goldberg-Stern H, Aharoni S, Afawi Z, et al. Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus. J Child Neurol. 2014;29:221-226.
-
(2014)
J Child Neurol.
, vol.29
, pp. 221-226
-
-
Goldberg-Stern, H.1
Aharoni, S.2
Afawi, Z.3
-
7
-
-
69449089315
-
A functional null mutation of SCN1B in a patient with Dravet syndrome
-
Patino GA, Claes LR, Lopez-Santiago LF, et al. A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci. 2009;29:10764-10778.
-
(2009)
J Neurosci.
, vol.29
, pp. 10764-10778
-
-
Patino, G.A.1
Claes, L.R.2
Lopez-Santiago, L.F.3
-
8
-
-
84902171183
-
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
-
Carvill GL, Weckhuysen S, McMahon JM, et al. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology. 2014;82:1245-1253.
-
(2014)
Neurology.
, vol.82
, pp. 1245-1253
-
-
Carvill, G.L.1
Weckhuysen, S.2
McMahon, J.M.3
-
9
-
-
61449230751
-
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
-
Depienne C, Bouteiller D, Keren B, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009;5: e1000381.
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000381
-
-
Depienne, C.1
Bouteiller, D.2
Keren, B.3
-
10
-
-
38949127199
-
Navigating the channels and beyond: Unravelling the genetics of the epilepsies
-
Helbig I, Scheffer IE, Mulley JC, et al. Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol. 2008;7:231-245.
-
(2008)
Lancet Neurol.
, vol.7
, pp. 231-245
-
-
Helbig, I.1
Scheffer, I.E.2
Mulley, J.C.3
-
11
-
-
84900862090
-
The hidden genetics of epilepsy - A clinically important new paradigm
-
Thomas RH, Berkovic SF. The hidden genetics of epilepsy-a clinically important new paradigm. Nat Rev Neurol. 2014;10:283-292.
-
(2014)
Nat Rev Neurol.
, vol.10
, pp. 283-292
-
-
Thomas, R.H.1
Berkovic, S.F.2
-
12
-
-
84864928152
-
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
-
Heinzen EL, Depondt C, Cavalleri GL, et al. Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. Am J Hum Genet. 2012;91:293-302.
-
(2012)
Am J Hum Genet.
, vol.91
, pp. 293-302
-
-
Heinzen, E.L.1
Depondt, C.2
Cavalleri, G.L.3
-
13
-
-
79959667218
-
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy
-
Klassen T, Davis C, Goldman A, et al. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell. 2011;145:1036-1048.
-
(2011)
Cell.
, vol.145
, pp. 1036-1048
-
-
Klassen, T.1
Davis, C.2
Goldman, A.3
-
14
-
-
84921803785
-
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
-
EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, and Epi4K Consortium
-
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;95:360-370.
-
(2014)
Am J Hum Genet.
, vol.95
, pp. 360-370
-
-
-
15
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Allen AS, Berkovic SF, Cossette P, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217-221.
-
(2013)
Nature.
, vol.501
, pp. 217-221
-
-
Allen, A.S.1
Berkovic, S.F.2
Cossette, P.3
-
16
-
-
84922329183
-
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31. 3 microdeletion syndrome
-
Lalani SR, Zhang J, Schaaf CP, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014;95:579-583.
-
(2014)
Am J Hum Genet.
, vol.95
, pp. 579-583
-
-
Lalani, S.R.1
Zhang, J.2
Schaaf, C.P.3
-
17
-
-
84911948736
-
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
-
Schubert J, 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, J.1
Siekierska, A.2
Langlois, M.3
-
18
-
-
84883759326
-
De Novo mutations in GNAO1, encoding a Galphao subunit of heterotrimeric G proteins, cause epileptic encephalopathy
-
Nakamura K, Kodera H, Akita T, et al. De Novo mutations in GNAO1, encoding a Galphao 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
-
19
-
-
84887612319
-
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause earlyonset epileptic encephalopathy
-
Kodera H, Nakamura K, Osaka H, et al. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause earlyonset epileptic encephalopathy. Hum Mutat. 2013;34:1708-1714.
-
(2013)
Hum Mutat.
, vol.34
, pp. 1708-1714
-
-
Kodera, H.1
Nakamura, K.2
Osaka, H.3
-
20
-
-
84890151248
-
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
-
Suls A, Jaehn JA, Kecskes A, 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;93:967-975.
-
(2013)
Am J Hum Genet.
, vol.93
, pp. 967-975
-
-
Suls, A.1
Jaehn, J.A.2
Kecskes, A.3
-
21
-
-
84894060054
-
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy
-
Lemke JR, Hendrickx 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
Hendrickx, R.2
Geider, K.3
-
22
-
-
84865020270
-
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
-
Lemke JR, Riesch E, Scheurenbrand T, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia. 2012;53:1387-1398.
-
(2012)
Epilepsia.
, vol.53
, pp. 1387-1398
-
-
Lemke, J.R.1
Riesch, E.2
Scheurenbrand, T.3
-
23
-
-
84927517194
-
The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009
-
Bayat A, Hjalgrim H, Moller RS. The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009. Epilepsia. 2015;56:e36-e39.
-
(2015)
Epilepsia.
, vol.56
, pp. e36-e39
-
-
Bayat, A.1
Hjalgrim, H.2
Moller, R.S.3
-
24
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013;369:1502-1511.
-
(2013)
N Engl J Med.
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
25
-
-
0033960165
-
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
-
Bennett LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology. 2000;54:125-130.
-
(2000)
Neurology.
, vol.54
, pp. 125-130
-
-
Bennett, L.B.1
Roach, E.S.2
Bowcock, A.M.3
-
26
-
-
0033868150
-
Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies
-
Swoboda KJ, Soong B, 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.2
McKenna, C.3
-
27
-
-
0033361838
-
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11. 2-q12.1
-
Tomita H, Nagamitsu S, Wakui K, et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am J Hum Genet. 1999;65:1688-1697.
-
(1999)
Am J Hum Genet.
, vol.65
, pp. 1688-1697
-
-
Tomita, H.1
Nagamitsu, S.2
Wakui, K.3
-
28
-
-
0033775093
-
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22 1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
-
Valente EM, Spacey SD, Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain. 2000;123 (Pt 10):2040-2045.
-
(2000)
Brain.
, vol.123
, pp. 2040-2045
-
-
Valente, E.M.1
Spacey, S.D.2
Wali, G.M.3
-
29
-
-
82255186531
-
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
-
Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43:1252-1255.
-
(2011)
Nat Genet.
, vol.43
, pp. 1252-1255
-
-
Chen, W.J.1
Lin, Y.2
Xiong, Z.Q.3
-
30
-
-
84855827661
-
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
-
Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet. 2012;90:152-160.
-
(2012)
Am J Hum Genet.
, vol.90
, pp. 152-160
-
-
Heron, S.E.1
Grinton, B.E.2
Kivity, S.3
-
31
-
-
84874766771
-
Role of PRRT2 in common paroxysmal neurological disorders: A gene with remarkable pleiotropy
-
Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: A gene with remarkable pleiotropy. J Med Genet. 2013;50:133-139.
-
(2013)
J Med Genet.
, vol.50
, pp. 133-139
-
-
Heron, S.E.1
Dibbens, L.M.2
-
32
-
-
4544255725
-
Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12
-
Berkovic SF, Serratosa JM, Phillips HA, et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia. 2004;45:1054-1060.
-
(2004)
Epilepsia.
, vol.45
, pp. 1054-1060
-
-
Berkovic, S.F.1
Serratosa, J.M.2
Phillips, H.A.3
-
33
-
-
0142104303
-
Familial partial epilepsy with variable foci in a Dutch family: Clinical characteristics and confirmation of linkage to chromosome 22q
-
Callenbach PM, van den Maagdenberg AM, Hottenga JJ, et al. Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q. Epilepsia. 2003;44:1298-1305.
-
(2003)
Epilepsia.
, vol.44
, pp. 1298-1305
-
-
Callenbach, P.M.1
Van Den Maagdenberg, A.M.2
Hottenga, J.J.3
-
34
-
-
84864999751
-
Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum
-
Klein KM, O'Brien TJ, Praveen K, et al. Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum. Epilepsia. 2012;53:e151-e155.
-
(2012)
Epilepsia.
, vol.53
, pp. e151-e155
-
-
Klein, K.M.1
O'Brien, T.J.2
Praveen, K.3
-
35
-
-
77956307395
-
Familial partial epilepsy with variable foci: A new family with suggestion of linkage to chromosome 22q12
-
Morales-Corraliza J, Gomez-Garre P, Sanz R, et al. Familial partial epilepsy with variable foci: A new family with suggestion of linkage to chromosome 22q12. Epilepsia. 2010;51:1910-1914.
-
(2010)
Epilepsia.
, vol.51
, pp. 1910-1914
-
-
Morales-Corraliza, J.1
Gomez-Garre, P.2
Sanz, R.3
-
36
-
-
0033362028
-
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12
-
Xiong L, Labuda M, Li DS, et al. Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. Am J Hum Genet. 1999;65:1698-1710.
-
(1999)
Am J Hum Genet.
, vol.65
, pp. 1698-1710
-
-
Xiong, L.1
Labuda, M.2
Li, D.S.3
-
37
-
-
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
-
38
-
-
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
-
39
-
-
84903974365
-
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy
-
Picard F, Makrythanasis P, Navarro V, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology. 2014;82:2101-2106.
-
(2014)
Neurology.
, vol.82
, pp. 2101-2106
-
-
Picard, F.1
Makrythanasis, P.2
Navarro, V.3
-
40
-
-
84902281810
-
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
-
Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014;75:782-787.
-
(2014)
Ann Neurol.
, vol.75
, pp. 782-787
-
-
Scheffer, I.E.1
Heron, S.E.2
Regan, B.M.3
-
41
-
-
84946721624
-
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5
-
Scerri T, Riseley JR, Gillies G, et al. Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5. Ann Clin Transl Neurol. 2015;2:575-580.
-
(2015)
Ann Clin Transl Neurol.
, vol.2
, pp. 575-580
-
-
Scerri, T.1
Riseley, J.R.2
Gillies, G.3
-
42
-
-
84925430981
-
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
-
Baulac S, Ishida S, Marsan E, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015;77:675-683.
-
(2015)
Ann Neurol.
, vol.77
, pp. 675-683
-
-
Baulac, S.1
Ishida, S.2
Marsan, E.3
-
43
-
-
84868196552
-
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
-
Heron SE, Smith KR, Bahlo M, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012;44:1188-1190.
-
(2012)
Nat Genet.
, vol.44
, pp. 1188-1190
-
-
Heron, S.E.1
Smith, K.R.2
Bahlo, M.3
-
44
-
-
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
-
45
-
-
84940953478
-
De novo KCNT1 mutations in early-onset epileptic encephalopathy
-
Sep Epub 2015 Jul 3
-
Ohba C, Kato M, Takahashi N, et al. De novo KCNT1 mutations in early-onset epileptic encephalopathy. Epilepsia. 2015 Sep;56(9):e121-e128. doi: 10.1111/ epi.13072. Epub 2015 Jul 3.
-
(2015)
Epilepsia
, vol.56
, Issue.9
, pp. e121-e128
-
-
Ohba, C.1
Kato, M.2
Takahashi, N.3
-
46
-
-
84940963068
-
Mutations in KCNT1 cause a spectrum of focal epilepsies
-
Sep. Epub 2015 Jun 30
-
Moller RS, Heron SE, Larsen LH, et al. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015 Sep;56 (9):e114-e120. doi: 10.1111/epi.13071. Epub 2015 Jun 30.
-
(2015)
Epilepsia.
, vol.56
, Issue.9
, pp. e114-e120
-
-
Moller, R.S.1
Heron, S.E.2
Larsen, L.H.3
-
47
-
-
84900557599
-
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
-
Martin HC, Kim GE, Pagnamenta AT, et al. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet. 2014;23:3200-3211.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 3200-3211
-
-
Martin, H.C.1
Kim, G.E.2
Pagnamenta, A.T.3
-
48
-
-
84907880048
-
Targeted treatment of migrating partial seizures of infancy with quinidine
-
Bearden D, Strong A, Ehnot J, et al. Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol. 2014;76:457-461.
-
(2014)
Ann Neurol.
, vol.76
, pp. 457-461
-
-
Bearden, D.1
Strong, A.2
Ehnot, J.3
-
49
-
-
84883446382
-
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
-
Carvill GL, Regan BM, Yendle SC, et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013;45:1073-1076.
-
(2013)
Nat Genet.
, vol.45
, pp. 1073-1076
-
-
Carvill, G.L.1
Regan, B.M.2
Yendle, S.C.3
-
50
-
-
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;45:1067-1072.
-
(2013)
Nat Genet.
, vol.45
, pp. 1067-1072
-
-
Lemke, J.R.1
Lal, D.2
Reinthaler, E.M.3
-
51
-
-
84883462975
-
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction
-
Lesca G, Rudolf G, Bruneau N, et al. GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. Nat Genet. 2013;45:1061-1066.
-
(2013)
Nat Genet.
, vol.45
, pp. 1061-1066
-
-
Lesca, G.1
Rudolf, G.2
Bruneau, N.3
-
52
-
-
84879684377
-
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
-
Carvill GL, Heavin SB, Yendle SC, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013;45:825-830.
-
(2013)
Nat Genet.
, vol.45
, pp. 825-830
-
-
Carvill, G.L.1
Heavin, S.B.2
Yendle, S.C.3
-
53
-
-
84879800722
-
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy
-
Kodera H, Kato M, Nord AS, et al. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Epilepsia. 2013;54:1262-1269.
-
(2013)
Epilepsia.
, vol.54
, pp. 1262-1269
-
-
Kodera, H.1
Kato, M.2
Nord, A.S.3
-
54
-
-
84900479947
-
Diagnostic yield of clinical next-generation sequencing panels for epilepsy
-
Wang J, Gotway G, Pascual JM, et al. Diagnostic yield of clinical next-generation sequencing panels for epilepsy. JAMA Neurol. 2014;71:650-651.
-
(2014)
JAMA Neurol.
, vol.71
, pp. 650-651
-
-
Wang, J.1
Gotway, G.2
Pascual, J.M.3
-
55
-
-
84928635136
-
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
-
Della ME, Ciccone R, Brustia F, et al. Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. Eur J Hum Genet. 2015;23:354-362.
-
(2015)
Eur J Hum Genet.
, vol.23
, pp. 354-362
-
-
Della, M.E.1
Ciccone, R.2
Brustia, F.3
-
56
-
-
84929510832
-
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
-
Mercimek-Mahmutoglu S, Patel J, Cordeiro D, et al. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 2015;56:707-716.
-
(2015)
Epilepsia.
, vol.56
, pp. 707-716
-
-
Mercimek-Mahmutoglu, S.1
Patel, J.2
Cordeiro, D.3
-
57
-
-
84901670752
-
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
-
Nava C, Dalle C, Rastetter A, et al. De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014;46:640-645.
-
(2014)
Nat Genet.
, vol.46
, pp. 640-645
-
-
Nava, C.1
Dalle, C.2
Rastetter, A.3
-
58
-
-
84858070732
-
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, 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;90:502-510.
-
(2012)
Am J Hum Genet.
, vol.90
, pp. 502-510
-
-
Veeramah, K.R.1
O'Brien, J.E.2
Meisler, M.H.3
-
59
-
-
0025819954
-
Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay
-
De Vivo DC, Trifiletti RR, Jacobson RI, et al. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325:703-709.
-
(1991)
N Engl J Med.
, vol.325
, pp. 703-709
-
-
De Vivo, D.C.1
Trifiletti, R.R.2
Jacobson, R.I.3
-
60
-
-
84899952041
-
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
-
Milligan CJ, Li M, Gazina EV, et al. KCNT1 gain 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
-
61
-
-
84955351488
-
Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: A molecular neuropharmacological approach
-
Aug 9. [Epub ahead of print]
-
Boerma RS, Braun KP, van de Broek MP, et al. Remarkable phenytoin sensitivity in 4 children with SCN8A-related epilepsy: A molecular neuropharmacological approach. Neurotherapeutics. 2015 Aug 9. [Epub ahead of print]
-
(2015)
Neurotherapeutics
-
-
Boerma, R.S.1
Braun, K.P.2
Van De Broek, M.P.3
-
62
-
-
84924979951
-
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability
-
Kong W, Zhang Y, Gao Y, et al. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia. 2015;56:431-438.
-
(2015)
Epilepsia
, vol.56
, pp. 431-438
-
-
Kong, W.1
Zhang, Y.2
Gao, Y.3
-
63
-
-
84925375639
-
The phenotypic spectrum of SCN8A encephalopathy
-
Larsen J, Carvill GL, Gardella E, et al. 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
-
64
-
-
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
-
65
-
-
84864704934
-
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
-
Brunklaus A, Ellis R, Reavey E, et al. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain. 2012;135:2329-2336.
-
(2012)
Brain.
, vol.135
, pp. 2329-2336
-
-
Brunklaus, A.1
Ellis, R.2
Reavey, E.3
|