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Recent advances in epilepsy genomics and genetic testing

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and...

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Detalles Bibliográficos
Autores principales: Hebbar, Malavika, Mefford, Heather C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076331/
https://www.ncbi.nlm.nih.gov/pubmed/32201576
http://dx.doi.org/10.12688/f1000research.21366.1