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Zaid Afawi
Zaid Afawi
Erasmus University Medical Center, Rotterdam, the Netherlands
Bestätigte E-Mail-Adresse bei post.bgu.ac.il
Titel
Zitiert von
Zitiert von
Jahr
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
7032013
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776-781, 2008
4922008
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ...
Nature genetics 44 (11), 1188-1190, 2012
4032012
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
A Suls, P Dedeken, K Goffin, H Van Esch, P Dupont, D Cassiman, ...
Brain 131 (7), 1831-1844, 2008
3802008
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
3122015
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ...
The American Journal of Human Genetics 90 (1), 152-160, 2012
3052012
Blood–brain barrier disruption in post-traumatic epilepsy
O Tomkins, I Shelef, I Kaizerman, A Eliushin, Z Afawi, A Misk, M Gidon, ...
Journal of Neurology, Neurosurgery & Psychiatry 79 (7), 774-777, 2008
2572008
Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
RD Bagnall, DE Crompton, S Petrovski, L Lam, C Cutmore, SI Garry, ...
Annals of neurology 79 (4), 522-534, 2016
2452016
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ...
The American Journal of Human Genetics 83 (5), 572-581, 2008
2412008
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
2302019
Epilepsy and mental retardation limited to females: an under-recognized disorder
IE Scheffer, SJ Turner, LM Dibbens, MA Bayly, K Friend, B Hodgson, ...
Brain 131 (4), 918-927, 2008
2172008
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
C Marini, IE Scheffer, R Nabbout, D Mei, K Cox, LM Dibbens, ...
Epilepsia 50 (7), 1670-1678, 2009
1912009
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies
T Arsov, SA Mullen, S Rogers, AM Phillips, KM Lawrence, JA Damiano, ...
Annals of neurology 72 (5), 807-815, 2012
1692012
Genetic epilepsy with febrile seizures plus: Refining the spectrum
YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ...
Neurology 89 (12), 1210-1219, 2017
1462017
Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome
BE Grinton, SE Heron, JT Pelekanos, SM Zuberi, S Kivity, Z Afawi, ...
Epilepsia 56 (7), 1071-1080, 2015
1462015
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ...
The American Journal of Human Genetics 87 (3), 371-375, 2010
1392010
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
MA Corbett, T Kroes, L Veneziano, MF Bennett, R Florian, AL Schneider, ...
Nature communications 10 (1), 4920, 2019
1222019
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ...
Neurology 87 (1), 77-85, 2016
1192016
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
K Hardies, CGF De Kovel, S Weckhuysen, B Asselbergh, T Geuens, ...
Brain 138 (11), 3238-3250, 2015
982015
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
IE Scheffer, BE Grinton, SE Heron, S Kivity, Z Afawi, X Iona, ...
Neurology 79 (21), 2104-2108, 2012
962012
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