-
1
-
-
84865728428
-
Benign childhood focal epilepsies
-
Guerrini R, Pellacani S,. Benign childhood focal epilepsies. Epilepsia 2012; 53 (Suppl. 4): 9-18.
-
(2012)
Epilepsia
, vol.53
, Issue.SUPPL. 4
, pp. 9-18
-
-
Guerrini, R.1
Pellacani, S.2
-
2
-
-
68149099903
-
Atypical rolandic epilepsy
-
Fejerman N,. Atypical rolandic epilepsy. Epilepsia 2009; 50 (Suppl. 7): 9-12.
-
(2009)
Epilepsia
, vol.50
, Issue.SUPPL. 7
, pp. 9-12
-
-
Fejerman, N.1
-
3
-
-
84856318183
-
Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes
-
Vears DF, Tsai MH, Sadleir LG, et al. Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. Epilepsia 2012; 53: 319-324.
-
(2012)
Epilepsia
, vol.53
, pp. 319-324
-
-
Vears, D.F.1
Tsai, M.H.2
Sadleir, L.G.3
-
4
-
-
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
-
5
-
-
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
-
6
-
-
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
-
7
-
-
84883637233
-
RBFOX1 and RBFOX3 mutations in rolandic epilepsy
-
Lal D, Reinthaler EM, Altmuller J, et al. RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS ONE 2013; 8: e73323.
-
(2013)
PLoS ONE
, vol.8
-
-
Lal, D.1
Reinthaler, E.M.2
Altmuller, J.3
-
8
-
-
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
-
9
-
-
69249246953
-
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
-
Strug LJ, Clarke T, Chiang T, et al. Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet 2009; 17: 1171-1181.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 1171-1181
-
-
Strug, L.J.1
Clarke, T.2
Chiang, T.3
-
10
-
-
33645115357
-
SRPX2 mutations in disorders of language cortex and cognition
-
Roll P, Rudolf G, Pereira S, et al. SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 2006; 15: 1195-1207.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1195-1207
-
-
Roll, P.1
Rudolf, G.2
Pereira, S.3
-
11
-
-
59349089711
-
Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin
-
Crepper C, Malinouskaya L, Volvert ML, et al. Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. Cell 2009; 136: 551-564.
-
(2009)
Cell
, vol.136
, pp. 551-564
-
-
Crepper, C.1
Malinouskaya, L.2
Volvert, M.L.3
-
12
-
-
84880955100
-
Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero
-
Salmi M, Bruneau N, Cillario J, et al. Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero. Brain 2013; 136: 2457-2473.
-
(2013)
Brain
, vol.136
, pp. 2457-2473
-
-
Salmi, M.1
Bruneau, N.2
Cillario, J.3
-
13
-
-
84872722295
-
Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders
-
Lim ET, Raychaudhuri S, Sanders SJ, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013; 77: 235-242.
-
(2013)
Neuron
, vol.77
, pp. 235-242
-
-
Lim, E.T.1
Raychaudhuri, S.2
Sanders, S.J.3
-
14
-
-
84881618216
-
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
-
Piton A, Redin C, Mandel JL,. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013; 93: 368-383.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 368-383
-
-
Piton, A.1
Redin, C.2
Mandel, J.L.3
-
15
-
-
84888068454
-
The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice
-
Sia GM, Clem RL, Huganir RL,. The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice. Science 2013; 342: 987-991.
-
(2013)
Science
, vol.342
, pp. 987-991
-
-
Sia, G.M.1
Clem, R.L.2
Huganir, R.L.3
-
16
-
-
0035807360
-
A forkhead-domain gene is mutated in a severe speech and language disorder
-
Lai CS, Fisher SE, Hurst JA, et al. A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 2001; 413: 519-523.
-
(2001)
Nature
, vol.413
, pp. 519-523
-
-
Lai, C.S.1
Fisher, S.E.2
Hurst, J.A.3
-
17
-
-
78649477258
-
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex
-
Roll P, Vernes SC, Bruneau N, et al. Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Hum Mol Genet 2010; 19: 4848-4860.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4848-4860
-
-
Roll, P.1
Vernes, S.C.2
Bruneau, N.3
-
18
-
-
78651077537
-
PCSK6 is associated with handedness in individuals with dyslexia
-
Scerri TS, Brandler WM, Paracchini S, et al. PCSK6 is associated with handedness in individuals with dyslexia. Hum Mol Genet 2011; 20: 608-614.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 608-614
-
-
Scerri, T.S.1
Brandler, W.M.2
Paracchini, S.3
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