T
Tariq Zaman
Researcher at Children's Hospital of Philadelphia
Publications - 3
Citations - 133
Tariq Zaman is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: SCN3A & Epilepsy. The author has an hindex of 3, co-authored 3 publications receiving 85 citations.
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Journal ArticleDOI
Mutations in SCN3A cause early infantile epileptic encephalopathy.
Tariq Zaman,Ingo Helbig,Ingo Helbig,Ingo Helbig,Ivana Babić Božović,Suzanne D. DeBrosse,A. G. Christina Bergqvist,Kimberly Wallis,Livija Medne,Aleš Maver,Borut Peterlin,Katherine L. Helbig,Xiaohong Zhang,Ethan M. Goldberg,Ethan M. Goldberg +14 more
TL;DR: A cohort of 4 patients with epileptic encephalopathy and heterozygous de novo missense variants in SCN3A are described, linking the genes SCN1A, SCN2A, and SCN8A, encoding the Na+ channel pore‐forming subunits Nav1.1, 1.2, and 1.6, to genetic epilepsies.
Journal ArticleDOI
SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
Tariq Zaman,Katherine L. Helbig,Jérôme Clatot,Christopher H. Thompson,Seok Kyu Kang,Katrien Stouffs,Anna E. Jansen,Lieve Verstraete,Adeline Jacquinet,Elena Parrini,Renzo Guerrini,Yuh Fujiwara,Satoko Miyatake,Bruria Ben-Zeev,Bruria Ben-Zeev,Haim Bassan,Orit Reish,Daphna Marom,Natalie Hauser,Thuy Anh Vu,Sally Ackermann,Careni Spencer,Natalie Lippa,Shraddha Srinivasan,Agnieszka Charzewska,Dorota Hoffman-Zacharska,David R. FitzPatrick,Victoria Harrison,Pradeep Vasudevan,Shelagh Joss,Daniela T. Pilz,Katherine A. Fawcett,Ingo Helbig,Naomichi Matsumoto,Jennifer A. Kearney,Andrew E. Fry,Andrew E. Fry,Ethan M. Goldberg +37 more
TL;DR: The spectrum of clinical, genetic, and neuroimaging features of SCN3A‐related neurodevelopmental disorder are defined.
Journal ArticleDOI
A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization
TL;DR: Clinical and genetic features of all patients with SCN8A epilepsy evaluated at a single‐tertiary care center are described, with biophysical data on identified Nav1.6 variants and pharmacological response to selected Na+ channel blockers.