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

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 (2019)

Publication Type: Journal article

Publication year: 2019

Journal

Molecular Medicine Feinstein Institute for Medical Research

Book Volume: 25

DOI: 10.1186/s10020-019-0073-6

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.

Authors with CRIS profile

Heinrich Sticht Professur für Bioinformatik

Involved external institutions

University of Zurich / Universität Zürich (UZH) CH Switzerland (CH) Nantes University Hospital / Centre hospitalier universitaire de Nantes (CHU) FR France (FR) Universitäts-Kinderspital Zürich CH Switzerland (CH) Schweizerisches Epilepsie-Zentrum CH Switzerland (CH) Riken Institute of Physical and Chemical Research / 理研 JP Japan (JP) National Epilepsy Center JP Japan (JP)

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).

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