Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort

Childhood epilepsy is a considerably heterogeneous neurological condition with a high worldwide incidence. Genetic diagnosis of childhood epilepsy provides the most accurate pathogenetic evidence; however, a large proportion of highly suspected cases remain undiagnosed. Accumulation of rare variants...

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Detalles Bibliográficos
Autores principales: Yao, Ruen, Zhou, Yunqing, Tang, Jie, Li, Niu, Yu, Tingting, He, Yingzhong, Wang, Cuijin, Wang, Jiwen, Wang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725238/
https://www.ncbi.nlm.nih.gov/pubmed/34992632
http://dx.doi.org/10.3389/fgene.2021.782419

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8725238/
https://www.ncbi.nlm.nih.gov/pubmed/34992632
http://dx.doi.org/10.3389/fgene.2021.782419

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