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

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

Abstract Background Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) 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 spe...

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Bibliographic Details
Main Authors: Anaïs Begemann, Mario A. Acuña, Markus Zweier, Marie Vincent, Katharina Steindl, Ruxandra Bachmann-Gagescu, Annette Hackenberg, Lucia Abela, Barbara Plecko, Judith Kroell-Seger, Alessandra Baumer, Kazuhiro Yamakawa, Yushi Inoue, Reza Asadollahi, Heinrich Sticht, Hanns Ulrich Zeilhofer, Anita Rauch
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Molecular Medicine
Subjects:
SCN2A
Nav1.2
Channelopathy
Patch-clamp
Epilepsy
Epileptic encephalopathy
Online Access:http://link.springer.com/article/10.1186/s10020-019-0073-6

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http://link.springer.com/article/10.1186/s10020-019-0073-6

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