Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

Introduction: Epilepsy is a group of neurological disorders characterized by recurring seizures and fits. The Epilepsy genes can be classified into four distinct groups, based on involvement of these genes in different pathways leading to Epilepsy as a phenotype. Genetically the disease has been ass...

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Autores principales:	Angham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman, Nabeel Tariq, Mashal Ahmad, Muhammad Owais, Najumuddin, Osama Yousef Muthaffar, Fehmida Bibi, Rin Khang, Seung Woo Ryu, Muhammad Imran Naseer, Musharraf Jelani
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2023-06-01
Colección:	Frontiers in Genetics
Materias:	epilepsy whole exome sequencing (WES) low income and middle income countries molecular diagnoses CNTN2 CARS2
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1185065/full
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