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Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient

In this report, we describe a 15-year-old Malaysian male patient with a de novo SCN1A mutation who experienced prolonged febrile seizures after his first seizure at 6 months of age. This boy had generalized tonic clonic seizure (GTCS) which occurred with and without fever. Sequencing analysis of vol...

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Detalles Bibliográficos
Autores principales: Tan, Emmilia H., Yusoff, Abdul Aziz M., Abdullah, Jafri M., Razak, Salmi A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519070/
https://www.ncbi.nlm.nih.gov/pubmed/23248692
http://dx.doi.org/10.4103/1817-1745.102575

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