| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2 A Escayg, BT MacDonald, MH Meisler, S Baulac, G Huberfeld, ... Nature genetics 24 (4), 343-345, 2000 | 1305 | 2000 |
| Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia A Escayg, M De Waard, DD Lee, D Bichet, P Wolf, T Mayer, J Johnston, ... The American Journal of Human Genetics 66 (5), 1531-1539, 2000 | 536 | 2000 |
| Sodium channel SCN1A and epilepsy: Mutations and mechanisms A Escayg, AL Goldin Epilepsia 51 (9), 1650-1658, 2010 | 486 | 2010 |
| A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus—and prevalence of variants in patients with epilepsy A Escayg, A Heils, BT MacDonald, K Haug, T Sander, MH Meisler The American Journal of Human Genetics 68 (4), 866-873, 2001 | 397 | 2001 |
| Sodium channels SCN1A, SCN2A and SCN3A in familial autism LA Weiss, A Escayg, JA Kearney, M Trudeau, BT MacDonald, M Mori, ... Molecular psychiatry 8 (2), 186-194, 2003 | 381 | 2003 |
| Altered function of the SCN1A voltage-gated sodium channel leads to γ-aminobutyric acid-ergic (GABAergic) interneuron abnormalities MS Martin, K Dutt, LA Papale, CM Dubé, SB Dutton, G de Haan, ... Journal of Biological Chemistry 285 (13), 9823-9834, 2010 | 265 | 2010 |
| The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy MS Martin, B Tang, LA Papale, FH Yu, WA Catterall, A Escayg Human molecular genetics 16 (23), 2892-2899, 2007 | 262 | 2007 |
| Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2 J Spampanato, A Escayg, MH Meisler, AL Goldin Journal of neuroscience 21 (19), 7481-7490, 2001 | 257 | 2001 |
| A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for β subunit interaction J Spampanato, JA Kearney, G De Haan, DP McEwen, A Escayg, I Aradi, ... Journal of Neuroscience 24 (44), 10022-10034, 2004 | 220 | 2004 |
| Identification of epilepsy genes in human and mouse MH Meisler, J Kearney, R Ottman, A Escayg Annual review of genetics 35 (1), 567-588, 2001 | 180 | 2001 |
| Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human NaV1. 1 mutation UBS Hedrich, C Liautard, D Kirschenbaum, M Pofahl, J Lavigne, Y Liu, ... Journal of Neuroscience 34 (45), 14874-14889, 2014 | 171 | 2014 |
| Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility SB Dutton, CD Makinson, LA Papale, A Shankar, B Balakrishnan, ... Neurobiology of disease 49, 211-220, 2013 | 146 | 2013 |
| Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice LA Papale, B Beyer, JM Jones, LM Sharkey, S Tufik, M Epstein, VA Letts, ... Human molecular genetics 18 (9), 1633-1641, 2009 | 146 | 2009 |
| Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Nav1. 1 sodium channels J Spampanato, A Escayg, MH Meisler, AL Goldin Neuroscience 116 (1), 37-48, 2003 | 141 | 2003 |
| An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability AJ Barela, SP Waddy, JG Lickfett, J Hunter, A Anido, SL Helmers, ... Journal of Neuroscience 26 (10), 2714-2723, 2006 | 132 | 2006 |
| Regulation of thalamic and cortical network synchrony by Scn8a CD Makinson, BS Tanaka, JM Sorokin, JC Wong, CA Christian, AL Goldin, ... Neuron 93 (5), 1165-1179. e6, 2017 | 123 | 2017 |
| Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4 M Von Brevern, N Ta, A Shankar, A Wiste, A Siegel, A Radtke, T Sander, ... Headache: The Journal of Head and Face Pain 46 (7), 1136-1141, 2006 | 120 | 2006 |
| Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus NA Hawkins, MS Martin, WN Frankel, JA Kearney, A Escayg Neurobiology of disease 41 (3), 655-660, 2011 | 115 | 2011 |
| A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation B Tang, K Dutt, L Papale, R Rusconi, A Shankar, J Hunter, S Tufik, ... Neurobiology of disease 35 (1), 91-102, 2009 | 114 | 2009 |
| Diagnostic yield from 339 epilepsy patients screened on a clinical gene panel KM Butler, C da Silva, JJ Alexander, M Hegde, A Escayg Pediatric neurology 77, 61-66, 2017 | 100 | 2017 |
