Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ... Nature genetics 45 (7), 825-830, 2013 | 752 | 2013 |
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 438 | 2017 |
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ... Nature genetics 47 (1), 39-46, 2015 | 333 | 2015 |
Long-term follow-up of patients with thalamic deep brain stimulation for epilepsy DM Andrade, D Zumsteg, C Hamani, M Hodaie, S Sarkissian, AM Lozano, ... Neurology 66 (10), 1571-1573, 2006 | 322 | 2006 |
Practical guidelines for managing adults with 22q11. 2 deletion syndrome WLA Fung, NJ Butcher, G Costain, DM Andrade, E Boot, EWC Chow, ... Genetics in Medicine 17 (8), 599-609, 2015 | 314 | 2015 |
ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions E Hirsch, J French, IE Scheffer, A Bogacz, T Alsaadi, MR Sperling, ... Epilepsia 63 (6), 1475-1499, 2022 | 308 | 2022 |
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 262 | 2019 |
Tonic seizures: a diagnostic clue of anti-LGI1 encephalitis? DM Andrade, P Tai, J Dalmau, R Wennberg Neurology 76 (15), 1355-1357, 2011 | 179 | 2011 |
Delineating the 15q13. 3 microdeletion phenotype: a case series and comprehensive review of the literature C Lowther, G Costain, DJ Stavropoulos, R Melvin, CK Silversides, ... Genetics in Medicine 17 (2), 149-157, 2015 | 150 | 2015 |
Deep brain stimulation of the anterior nucleus of the thalamus: effects of electrical stimulation on pilocarpine-induced seizures and status epilepticus C Hamani, M Hodaie, J Chiang, M del Campo, DM Andrade, D Sherman, ... Epilepsy research 78 (2-3), 117-123, 2008 | 150 | 2008 |
Anterior nucleus deep brain stimulation for refractory epilepsy: insights into patterns of seizure control and efficacious target V Krishna, NKK King, F Sammartino, I Strauss, DM Andrade, ... Neurosurgery 78 (6), 802-811, 2016 | 135 | 2016 |
Prevalence of pathogenic copy number variation in adults with pediatric-onset epilepsy and intellectual disability F Borlot, BM Regan, AS Bassett, DJ Stavropoulos, DM Andrade JAMA neurology 74 (11), 1301-1311, 2017 | 110 | 2017 |
Epilepsy: transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force DM Andrade, AS Bassett, E Bercovici, F Borlot, E Bui, P Camfield, ... Epilepsia 58 (9), 1502-1517, 2017 | 108 | 2017 |
Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11. 2 deletion syndrome ENM Cheung, SR George, DM Andrade, EWC Chow, CK Silversides, ... Genetics in Medicine 16 (1), 40-44, 2014 | 98 | 2014 |
Prevalence of hypocalcaemia and its associated features in 22q11· 2 deletion syndrome ENM Cheung, SR George, GA Costain, DM Andrade, EWC Chow, ... Clinical endocrinology 81 (2), 190-196, 2014 | 88 | 2014 |
Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) may respond to adjunctive ketogenic diet C Steriade, DM Andrade, H Faghfoury, MA Tarnopolsky, P Tai Pediatric neurology 50 (5), 498-502, 2014 | 88 | 2014 |
Skin biopsy in Lafora disease: genotype–phenotype correlations and diagnostic pitfalls DM Andrade, CA Ackerley, TSC Minett, HAG Teive, S Bohlega, ... Neurology 61 (11), 1611-1614, 2003 | 87 | 2003 |
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain DM Andrade Human genetics 126 (1), 173-193, 2009 | 82 | 2009 |
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability R Law, T Dixon-Salazar, J Jerber, N Cai, AA Abbasi, MS Zaki, K Mittal, ... The American Journal of Human Genetics 95 (6), 721-728, 2014 | 81 | 2014 |
Response to clozapine in a clinically identifiable subtype of schizophrenia NJ Butcher, WLA Fung, L Fitzpatrick, A Guna, DM Andrade, AE Lang, ... The British Journal of Psychiatry 206 (6), 484-491, 2015 | 79 | 2015 |