Phenotypic Spectrum of STXBP1 Gene Mutations in an Emirati Case Series

Genetic mutations are increasingly recognized as etiologic factors for epilepsy and neurodevelopmental disorders. Loss of function mutations in STXBP1, one of such genes, has, in recent years, been demonstrated to cause a broad spectrum of epilepsy syndromes and chronic neurodisabilities. Syntaxin-b...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Cureus 2023, Vol.15 (9), p.e46239-e46239
Hauptverfasser:	Pawar, Nikhil, Farid Mir, Fatima, Tahir, Saja, Kashyape, Pawan, Babiker, Mohamed O E
Format:	Report
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!