Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

BACKGROUND: Deleterious variants in the voltage-gated sodium channel type 2 (Na(v)1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum...

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Detalles Bibliográficos
Autores principales: Begemann, Anaïs, Acuña, Mario A., Zweier, Markus, Vincent, Marie, Steindl, Katharina, Bachmann-Gagescu, Ruxandra, Hackenberg, Annette, Abela, Lucia, Plecko, Barbara, Kroell-Seger, Judith, Baumer, Alessandra, Yamakawa, Kazuhiro, Inoue, Yushi, Asadollahi, Reza, Sticht, Heinrich, Zeilhofer, Hanns Ulrich, Rauch, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391808/
https://www.ncbi.nlm.nih.gov/pubmed/30813884
http://dx.doi.org/10.1186/s10020-019-0073-6

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