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Aziz Mazarib

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Israel

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Chromosomes, Human, Pair 12

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Sarah E Heron; Esther Kahana; Amos Korczyn; Laura Licchetta; Aziz Mazarib; Lino Nobili; Karen L Oliver; Steven Petrou; Giuseppe Plazzi; Ingrid E Scheffer; Katherine R Smith; Zaid Afawi; Melanie Bahlo; Samuel F Berkovic; Leanne M Dibbens
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Angelique E J Sijben; Pasiri Sithinamsuwan; Ashalata Radhakrishnan; Radwa Badawy; Leanne M Dibbens; Aziz Mazarib; Dorit Lev; Tally Lerman-Sagie; Rachel Straussberg; Samuel F Berkovic; Ingrid E Scheffer
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Alexander G Bassuk; Robyn H Wallace; Aimee Buhr; Andrew R Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L Griesbach; Shu Wu; Marcus Nashelsky; Eszter K Vladar; Dragana Antic; Polly J Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P Scott; Jeffrey D Axelrod; Christina Gurnett; Azhar Daoud; Sara Kivity; Miriam Y Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D Korczyn; Diane C Slusarski; Samuel F Berkovic; Hatem El-Shanti
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

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All Publications

2012: Sarah E Heron; Esther Kahana; Amos Korczyn; Laura Licchetta; Aziz Mazarib; Lino Nobili; Karen L Oliver; Steven Petrou; Giuseppe Plazzi; Ingrid E Scheffer; Katherine R Smith; Zaid Afawi; Melanie Bahlo; Samuel F Berkovic; Leanne M Dibbens
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Nature genetics 2012;44(11):1188-90.
2009: Angelique E J Sijben; Pasiri Sithinamsuwan; Ashalata Radhakrishnan; Radwa Badawy; Leanne M Dibbens; Aziz Mazarib; Dorit Lev; Tally Lerman-Sagie; Rachel Straussberg; Samuel F Berkovic; Ingrid E Scheffer
Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?
Epilepsia 2009;50(4):953-6.
2008: Alexander G Bassuk; Robyn H Wallace; Aimee Buhr; Andrew R Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L Griesbach; Shu Wu; Marcus Nashelsky; Eszter K Vladar; Dragana Antic; Polly J Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P Scott; Jeffrey D Axelrod; Christina Gurnett; Azhar Daoud; Sara Kivity; Miriam Y Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D Korczyn; Diane C Slusarski; Samuel F Berkovic; Hatem El-Shanti
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
American journal of human genetics 2008;83(5):572-81.
2008: Ingrid E Scheffer; Samantha J Turner; Leanne M Dibbens; Marta A Bayly; Kathryn Friend; Bree Hodgson; Linda Burrows; Marie Shaw; Chen Wei; Reinhard Ullmann; Hans-Hilger Ropers; Pierre Szepetowski; Eric Haan; Aziz Mazarib; Zaid Afawi; Miri Y Neufeld; P Ian Andrews; Geoffrey Wallace; Sara Kivity; Dorit Lev; Tally Lerman-Sagie; Christopher P Derry; Amos D Korczyn; Jozef Gecz; John C Mulley; Samuel F Berkovic
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Brain : a journal of neurology 2008;131(Pt 4):918-27.
2007: Rivka Inzelberg; Edna Schechtman; Amin Abuful; Magda Masarwa; Aziz Mazarib; Rosa Strugatsky; Lindsay A Farrer; Robert C Green; Robert P Friedland
Education effects on cognitive function in a healthy aged Arab population.
International psychogeriatrics / IPA 2007;19(3):593-603.
2006: Rivka Inzelberg; Aziz Mazarib; Magda Masarwa; Amin Abuful; Rosa Strugatsky; Robert F Friedland
Essential tremor prevalence is low in Arabic villages in Israel: door-to-door neurological examinations.
Journal of neurology 2006;253(12):1557-60.
2005: Samuel F Berkovic; Aziz Mazarib; Simri Walid; Miri Y Neufeld; Judith Manelis; Yoram Nevo; Amos D Korczyn; Jinggang Yin; Lan Xiong; Massimo Pandolfo; John C Mulley; Robyn H Wallace
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
Brain : a journal of neurology 2005;128(Pt 3):652-8.
2004: Carla Marini; Ingrid E Scheffer; Kathryn M Crossland; Bronwyn E Grinton; Fiona L Phillips; Jacinta M McMahon; Samantha J Turner; Joanne T Dean; Sara Kivity; Aziz Mazarib; Miri Y Neufeld; Amos D Korczyn; Louise A Harkin; Leanne M Dibbens; Robyn H Wallace; John C Mulley; Samuel F Berkovic
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
Epilepsia 2004;45(5):467-78.
2004: Samuel F Berkovic; P Izzillo; Jacinta M McMahon; Louise A Harkin; Anne M McIntosh; Hilary A Phillips; Regula S Briellmann; Robyn H Wallace; Aziz Mazarib; Miri Y Neufeld; Amos D Korczyn; Ingrid E Scheffer; John C Mulley
LGI1 mutations in temporal lobe epilepsies.
Neurology 2004;62(7):1115-9.
2004: Sarah E Heron; Hilary A Phillips; John C Mulley; Aziz Mazarib; Miri Y Neufeld; Samuel F Berkovic; Ingrid E Scheffer
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
Annals of neurology 2004;55(4):595-6.
2003: Sergiu C Blumen; Simon Bevan; Saif Abu-Mouch; David Negus; Michael Kahana; Rivka Inzelberg; Aziz Mazarib; Ahmad Mahamid; Ralph L Carasso; Hanoch Slor; David Withers; Puiu Nisipeanu; Ruth Navon; Evan Reid
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.
Annals of neurology 2003;54(6):796-803.
2001: Aziz Mazarib; Lan Xiong; Miri Y Neufeld; Miriam Birnbaum; Amos D Korczyn; Massimo Pandolfo; Samuel F Berkovic
Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats.
Neurology 2001;57(6):1050-4.
2001: Robyn H Wallace; Ingrid E Scheffer; S Barnett; M Richards; Leanne M Dibbens; R R Desai; Tally Lerman-Sagie; D Lev; Aziz Mazarib; N Brand; Bruria Ben-Zeev; Igor Goikhman; Rita Singh; Gabriel Kremmidiotis; Alison Gardner; Grant R Sutherland; A L George; John C Mulley; Samuel F Berkovic
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
American journal of human genetics 2001;68(4):859-65.