Підписатись
Zaid Afawi
Zaid Afawi
Erasmus University Medical Center, Rotterdam, the Netherlands
Підтверджена електронна адреса в post.bgu.ac.il
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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
7042013
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
4932008
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
4042012
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
3812008
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
3152015
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
2462016
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
2422008
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
1702012
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
1472017
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
1472015
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
1402010
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
972012
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