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

Journal article


Publication Details

Author(s): Begemann A, Acuna MA, Zweier M, Vincent M, Steindl K, Bachmann-Gagescu R, Hackenberg A, Abela L, Plecko B, Kroell-Seger J, Baumer A, Yamakawa K, Inoue Y, Asadollahi R, Sticht H, Zeilhofer HU, Rauch A
Journal: Molecular Medicine
Publication year: 2019
Volume: 25
ISSN: 1076-1551
eISSN: 1528-3658


Abstract

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 disorders (ASD). Yet, the underlying mechanisms are still incompletely understood.


FAU Authors / FAU Editors

Sticht, Heinrich Prof. Dr.
Professur für Bioinformatik


External institutions with authors

Nantes University Hospital / Centre hospitalier universitaire de Nantes (CHU)
National Epilepsy Center
Riken / 理研
Schweizerisches Epilepsie-Zentrum
Universitäts-Kinderspital Zürich
Universität Zürich (UZH)


How to cite

APA:
Begemann, A., Acuna, M.A., Zweier, M., Vincent, M., Steindl, K., Bachmann-Gagescu, R.,... Rauch, A. (2019). Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Molecular Medicine, 25. https://dx.doi.org/10.1186/s10020-019-0073-6

MLA:
Begemann, Anais, et al. "Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes." Molecular Medicine 25 (2019).

BibTeX: 

Last updated on 2019-16-04 at 18:08