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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Detalles Bibliográficos
Autores principales: Abdulkareem, Angham Abdulrhman, Zaman, Qaiser, Khan, Hamza, Khan, Sabar, Rehman, Gauhar, Tariq, Nabeel, Ahmad, Mashal, Owais, Muhammad, Najumuddin, Muthaffar, Osama Yousef, Bibi, Fehmida, Khang, Rin, Ryu, Seung Woo, Naseer, Muhammad Imran, Jelani, Musharraf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285458/
https://www.ncbi.nlm.nih.gov/pubmed/37359369
http://dx.doi.org/10.3389/fgene.2023.1185065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285458/
https://www.ncbi.nlm.nih.gov/pubmed/37359369
http://dx.doi.org/10.3389/fgene.2023.1185065

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