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...

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Detalles Bibliográficos
Autores principales: Pawar, Nikhil, Farid Mir, Fatima, Tahir, Saja, Kashyape, Pawan, Babiker, Mohamed O E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10613780/
https://www.ncbi.nlm.nih.gov/pubmed/37908909
http://dx.doi.org/10.7759/cureus.46239

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10613780/
https://www.ncbi.nlm.nih.gov/pubmed/37908909
http://dx.doi.org/10.7759/cureus.46239

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