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Whole genomic approach in mutation discovery of infantile spasms patients

Infantile spasms (IS) are a clinically and genetically heterogeneous group of epilepsy disorders in early infancy. The genetic backgrounds of IS have been gradually unraveled along with the increased application of next-generation sequencing (NGS). However, to date, only selected genomic regions hav...

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Detalles Bibliográficos
Autores principales: Lee, Seungbok, Jang, Sesong, Kim, Jong-Il, Chae, Jong Hee, Kim, Ki Joong, Lim, Byung Chan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9354570/
https://www.ncbi.nlm.nih.gov/pubmed/35937050
http://dx.doi.org/10.3389/fneur.2022.944905