Z
Zaid Afawi
Researcher at Tel Aviv University
Publications - 64
Citations - 4942
Zaid Afawi is an academic researcher from Tel Aviv University. The author has contributed to research in topics: Epilepsy & Exome sequencing. The author has an hindex of 31, co-authored 61 publications receiving 4305 citations. Previous affiliations of Zaid Afawi include Ben-Gurion University of the Negev & Boğaziçi University.
Papers
More filters
Journal ArticleDOI
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
Gemma L. Carvill,Sinéad Heavin,Simone C. Yendle,Jacinta M McMahon,Brian J. O'Roak,Joseph Cook,Adiba Khan,Michael O. Dorschner,Michael O. Dorschner,Molly Weaver,Molly Weaver,Sophie Calvert,Stephen M. Malone,Geoffrey Wallace,Thorsten Stanley,Ann M. E. Bye,Andrew Bleasel,Katherine B. Howell,Sara Kivity,Mark T Mackay,Victoria Rodriguez-Casero,Richard Webster,Amos D. Korczyn,Zaid Afawi,Nathanel Zelnick,Tally Lerman-Sagie,Tally Lerman-Sagie,Dorit Lev,Rikke S. Møller,Deepak Gill,Danielle M. Andrade,Jeremy L. Freeman,Lynette G. Sadleir,Jay Shendure,Samuel F. Berkovic,Ingrid E. Scheffer,Heather C Mefford +36 more
TL;DR: Target massively parallel resequencing of 19 known and 46 candidate genes for epileptic encephalopathy in 500 affected individuals (cases) to identify new genes involved and to investigate the phenotypic spectrum associated with mutations in known genes.
Journal ArticleDOI
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.
Leanne M. Dibbens,Leanne M. Dibbens,Patrick S. Tarpey,Kim Hynes,Kim Hynes,Marta A. Bayly,Ingrid E. Scheffer,Raffaella Smith,Jamee M. Bomar,Edwina Sutton,Lucianne Vandeleur,Cheryl Shoubridge,Sarah Edkins,Samantha J. Turner,Claire Stevens,Sarah O’Meara,Calli Tofts,Syd Barthorpe,Gemma Buck,Jennifer Cole,Kelly Halliday,David T. Jones,Rebecca Lee,Mark Madison,Tatiana Mironenko,Jennifer Varian,Sofie West,Sara Widaa,Paul Wray,John Teague,Ed Dicks,Adam Butler,Andrew Menzies,Andrew M. Jenkinson,Rebecca Shepherd,James F. Gusella,Zaid Afawi,Aziz Mazarib,Miriam Y. Neufeld,Sara Kivity,Dorit Lev,Tally Lerman-Sagie,Amos D. Korczyn,Christopher P. Derry,Grant R. Sutherland,Grant R. Sutherland,Kathryn Friend,Marie Shaw,Mark A. Corbett,Hyung Goo Kim,Daniel H. Geschwind,Paul Q. Thomas,Eric Haan,Eric Haan,Stephen G Ryan,Shane McKee,Samuel F. Berkovic,P. Andrew Futreal,Michael R. Stratton,John C. Mulley,John C. Mulley,Jozef Gecz,Jozef Gecz +62 more
TL;DR: In this paper, a systematic resequencing of 737 X chromosome genes was carried out to identify different protocadherin 19 (PCDH19) gene mutations in seven families with EFMR.
Journal ArticleDOI
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
Sarah E. Heron,Katherine R. Smith,Katherine R. Smith,Melanie Bahlo,Melanie Bahlo,Lino Nobili,Esther Kahana,Laura Licchetta,Karen Oliver,Aziz Mazarib,Zaid Afawi,Amos D. Korczyn,Giuseppe Plazzi,Steven Petrou,Steven Petrou,Samuel F. Berkovic,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Leanne M. Dibbens +19 more
TL;DR: Findings implicate the sodium-gated potassium channel complex in ADNFLE and, more broadly, in the pathogenesis of focal epilepsies.
Journal ArticleDOI
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Arvid Suls,Peter Dedeken,Karolien Goffin,Hilde Van Esch,Patrick Dupont,David Cassiman,Judith S. Kempfle,Thomas V. Wuttke,Yvonne G. Weber,Holger Lerche,Zaid Afawi,Wim Vandenberghe,Amos D. Korczyn,Samuel F. Berkovic,Dana Ekstein,Sara Kivity,Philippe Ryvlin,L Claes,Liesbet Deprez,Snezana Maljevic,Alberto Vargas,Tine Van Dyck,Dirk Goossens,Jurgen Del-Favero,Koen Van Laere,Peter De Jonghe,Wim Van Paesschen +26 more
TL;DR: In this article, the authors performed a clinical evaluation and genetic analysis in a five-generation family with co-occurrence of exercise-induced dyskinesia and epilepsy (n = 39), suggesting that this combination represents a clinical entity.
Journal Article
Paroxysmal exercise-induced dyskinesia and epilepsy due to mutations in SLC2A1, encoding the glucose transporter, Gluti
David Cassiman,A Suls,Peter Dedeken,Karolien Goffin,Hilde Van Esch,Patrick Dupont,Judith S. Kempfle,Thomas V. Wuttke,Yvonne G. Weber,Holger Lerche,Zaid Afawi,A. D Korezyn,Samuel F. Berkovic,Dana Ekstein,Sara Kivity,Philippe Ryvlin,L Claes,Liesbet Deprez,Snezana Maljevic,A Vargas,Tom Van Dyck,Dirk Goossens,Jurgen Del-Favero,Koen Van Laere,P. De Jonghe,Wim Van Paesschen +25 more
TL;DR: Co-occurring PED and epilepsy can be due to autosomal dominant heterozygous SLC2A1 mutations, expanding the phenotypic spectrum associated with GLUT1 deficiency and providing a potential new treatment option for this clinical syndrome.