Genotype–Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital

Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotypic presentations. Methods: A retrospective chart r...

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Detalles Bibliográficos
Autores principales: Bashiri, Fahad A., AlSheikh, Rawan, Hamad, Muddathir H., Alsheikh, Hamad, Alsheikh, Rana Abdullah, Kentab, Amal, AlTheeb, Najd, Alghamdi, Malak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453392/
https://www.ncbi.nlm.nih.gov/pubmed/37628333
http://dx.doi.org/10.3390/children10081334

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453392/
https://www.ncbi.nlm.nih.gov/pubmed/37628333
http://dx.doi.org/10.3390/children10081334

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