Exome Sequencing in an ADSHE Family: VUS Identification and Limits

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is the familial form of a focal epilepsy characterized by hyperkinetic focal seizures, mainly arising during non-rapid eye movements (NREM) sleep. Mutations associated with ADSHE account for a small proportion of the genetically determined...

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Detalles Bibliográficos
Autores principales: Villa, Chiara, Arrigoni, Federica, Rivellini, Eleonora, Lavitrano, Marialuisa, De Gioia, Luca, Ferini-Strambi, Luigi, Combi, Romina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9565017/
https://www.ncbi.nlm.nih.gov/pubmed/36231847
http://dx.doi.org/10.3390/ijerph191912548

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9565017/
https://www.ncbi.nlm.nih.gov/pubmed/36231847
http://dx.doi.org/10.3390/ijerph191912548

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