-
1
-
-
84878877916
-
Recent advances in the molecular genetics of epilepsy
-
Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Recent advances in the molecular genetics of epilepsy. J Med Genet 2013;50:271-279. doi: 10.1136/jmedgenet-2012-101448.
-
(2013)
J Med Genet
, vol.50
, pp. 271-279
-
-
Hildebrand, M.S.1
Dahl, H.H.2
Damiano, J.A.3
Smith, R.J.4
Scheffer, I.E.5
Berkovic, S.F.6
-
2
-
-
0035046476
-
Newly diagnosed unprovoked epileptic seizures: Presentation at diagnosis in CAROLE study. Coordination Active du Reseau Observatoire Longitudinal de l' Epilepsie
-
Jallon P, Loiseau P, Loiseau J. Newly diagnosed unprovoked epileptic seizures: presentation at diagnosis in CAROLE study. Coordination Active du Reseau Observatoire Longitudinal de l' Epilepsie. Epilepsia 2001;42:464-475.
-
(2001)
Epilepsia
, vol.42
, pp. 464-475
-
-
Jallon, P.1
Loiseau, P.2
Loiseau, J.3
-
3
-
-
0032569514
-
Epileptology of the first-seizure presentation: A clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients
-
King MA, Newton MR, Jackson GD, et al. Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients. Lancet 1998;352:1007-1011.
-
(1998)
Lancet
, vol.352
, pp. 1007-1011
-
-
King, M.A.1
Newton, M.R.2
Jackson, G.D.3
-
4
-
-
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
-
5
-
-
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
-
6
-
-
4444368505
-
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features
-
Bisulli F, Tinuper P, Scudellaro E, et al. A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. Ann Neurol 2004;56:455-456.
-
(2004)
Ann Neurol
, vol.56
, pp. 455-456
-
-
Bisulli, F.1
Tinuper, P.2
Scudellaro, E.3
-
7
-
-
0033854176
-
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
-
Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 2000;48: 264-267.
-
(2000)
Ann Neurol
, vol.48
, pp. 264-267
-
-
Phillips, H.A.1
Marini, C.2
Scheffer, I.E.3
Sutherland, G.R.4
Mulley, J.C.5
Berkovic, S.F.6
-
8
-
-
84877108149
-
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
-
Hiatt JB, Pritchard CC, Salipante SJ, O'Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res 2013;23:843-854.
-
(2013)
Genome Res
, vol.23
, pp. 843-854
-
-
Hiatt, J.B.1
Pritchard, C.C.2
Salipante, S.J.3
O'Roak, B.J.4
Shendure, J.5
-
10
-
-
0035956488
-
Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
-
Abou-Khalil B, Ge Q, Desai R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001;57:2265-2272.
-
(2001)
Neurology
, vol.57
, pp. 2265-2272
-
-
Abou-Khalil, B.1
Ge, Q.2
Desai, R.3
-
11
-
-
33845887196
-
Temporal lobe epilepsy and GEFS1 phenotypes associated with SCN1B mutations
-
Scheffer IE, Harkin LA, Grinton BE, et al. Temporal lobe epilepsy and GEFS1 phenotypes associated with SCN1B mutations. Brain 2007;130:100-109.
-
(2007)
Brain
, vol.130
, pp. 100-109
-
-
Scheffer, I.E.1
Harkin, L.A.2
Grinton, B.E.3
-
13
-
-
0024427198
-
A simple and efficient nonorganic procedure for the isolation of genomic DNA from blood
-
Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A. A simple and efficient nonorganic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 1989;17:8390.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 8390
-
-
Grimberg, J.1
Nawoschik, S.2
Belluscio, L.3
McKee, R.4
Turck, A.5
Eisenberg, A.6
-
14
-
-
33746578967
-
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
-
Aridon P, Marini C, Di Resta C, et al. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 2006;79:342-350.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 342-350
-
-
Aridon, P.1
Marini, C.2
Di Resta, C.3
-
15
-
-
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
-
16
-
-
0033763090
-
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
-
De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-276.
-
(2000)
Nat Genet
, vol.26
, pp. 275-276
-
-
De Fusco, M.1
Becchetti, A.2
Patrignani, A.3
-
17
-
-
44349150359
-
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
-
Dibbens LM, Tarpey PS, Hynes K, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet 2008;40:776-781. doi: 10.1038/ng.149.
-
(2008)
Nat Genet
, vol.40
, pp. 776-781
-
-
Dibbens, L.M.1
Tarpey, P.S.2
Hynes, K.3
-
18
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS12
-
Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS12. Nat Genet 2000;24:343-345.
-
(2000)
Nat Genet
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
-
19
-
-
77956361137
-
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
-
Falace A, Filipello F, La Padula V, et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am J Hum Genet 2010;87:365-370.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 365-370
-
-
Falace, A.1
Filipello, F.2
La Padula, V.3
-
20
-
-
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.
-
(1995)
Nat Genet
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
-
21
-
-
0032806451
-
Incidence of epileptic syndromes in Rochester, Minnesota: 1980-1984
-
Zarrelli MM, Beghi E, Rocca WA, Hauser WA. Incidence of epileptic syndromes in Rochester, Minnesota: 1980-1984. Epilepsia 1999;40:1708-1714.
-
(1999)
Epilepsia
, vol.40
, pp. 1708-1714
-
-
Zarrelli, M.M.1
Beghi, E.2
Rocca, W.A.3
Hauser, W.A.4
-
22
-
-
84879684377
-
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
-
doi: 810.1038/ng.2646
-
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. doi: 810.1038/ng.2646.
-
(2013)
Nat Genet
, vol.45
, pp. 825-830
-
-
Carvill, G.L.1
Heavin, S.B.2
Yendle, S.C.3
-
23
-
-
84899952041
-
KCNT1 gain-offunction in two epilepsy phenotypes is reversed by quinidine
-
Milligan CJ, Li M, Gazina E, et al. KCNT1 gain-offunction in two 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.3
-
24
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
doi: 210.1038/nature12439
-
Allen AS, Berkovic SF, Cossette P, et al. De novo mutations in epileptic encephalopathies. Nature 2013;501: 217-221. doi: 210.1038/nature12439.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
Allen, A.S.1
Berkovic, S.F.2
Cossette, P.3
-
25
-
-
78049329316
-
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
-
Endele S, Rosenberger G, Geider K, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 2010;42:1021-1026. doi: 1010.1038/ng.1677.
-
(2010)
Nat Genet
, vol.42
, pp. 1021-1026
-
-
Endele, S.1
Rosenberger, G.2
Geider, K.3
-
26
-
-
84908314239
-
De novo mutations in moderate or severe intellectual disability
-
Hamdan FF, Srour M, Capo-Chichi JM, et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet 2014;10:e1004772. doi: 10.1371/journal. pgen.1004772.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004772
-
-
Hamdan, F.F.1
Srour, M.2
Capo-Chichi, J.M.3
-
27
-
-
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. doi: 10.1002/ana.24073.
-
(2014)
Ann Neurol
, vol.75
, pp. 147-154
-
-
Lemke, J.R.1
Hendrickx, R.2
Geider, K.3
-
28
-
-
72449151659
-
Structure of the zinc-bound amino-terminal domain of the NMDA receptor NR2B subunit
-
Karakas E, Simorowski N, Furukawa H. Structure of the zinc-bound amino-terminal domain of the NMDA receptor NR2B subunit. EMBO J 2009;28:3910-3920. doi: 10.1038/emboj.2009.338.
-
(2009)
EMBO J
, vol.28
, pp. 3910-3920
-
-
Karakas, E.1
Simorowski, N.2
Furukawa, H.3
-
29
-
-
12144257176
-
The micromolar zinc-binding domain on the NMDA receptor subunit NR2B
-
Rachline J, Perin-Dureau F, Le Goff A, Neyton J, Paoletti P. The micromolar zinc-binding domain on the NMDA receptor subunit NR2B. J Neurosci 2005;25: 308-317.
-
(2005)
J Neurosci
, vol.25
, pp. 308-317
-
-
Rachline, J.1
Perin-Dureau, F.2
Le Goff, A.3
Neyton, J.4
Paoletti, P.5
-
30
-
-
34548429756
-
Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation
-
Colosimo E, Gambardella A, Mantegazza M, et al. Electroclinical features of a family with simple febrile seizures and temporal lobe epilepsy associated with SCN1A loss-of-function mutation. Epilepsia 2007;48: 1691-1696.
-
(2007)
Epilepsia
, vol.48
, pp. 1691-1696
-
-
Colosimo, E.1
Gambardella, A.2
Mantegazza, M.3
-
31
-
-
84884838178
-
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
-
Kasperaviciute D, Catarino CB, Matarin M, et al. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 2013;136:3140-3150.
-
(2013)
Brain
, vol.136
, pp. 3140-3150
-
-
Kasperaviciute, D.1
Catarino, C.B.2
Matarin, M.3
-
32
-
-
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. doi: 10.1371/journal.pgen.1000381.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000381
-
-
Depienne, C.1
Bouteiller, D.2
Keren, B.3
-
33
-
-
84928209346
-
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. 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;17:405-423. doi: 10.1038/gim.2015.30.
-
(2015)
Genet Med
, vol.17
, pp. 405-423
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
|