A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study

Background: Pediatric epileptic encephalopathy and severe neurological disorders comprise a group of heterogenous diseases. We used whole-exome sequencing (WES) to identify genetic defects in pediatric patients. Methods: Patients with refractory seizures using ≥2 antiepileptic drugs (AEDs) receiving...

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Detalles Bibliográficos
Autores principales: Hong, Syuan-Yu, Yang, Jiann-Jou, Li, Shuan-Yow, Lee, Inn-Chi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765181/
https://www.ncbi.nlm.nih.gov/pubmed/33333793
http://dx.doi.org/10.3390/jpm10040281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7765181/
https://www.ncbi.nlm.nih.gov/pubmed/33333793
http://dx.doi.org/10.3390/jpm10040281

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