A de novo missense variant in <i>GABRA4</i> alters receptor function in an epileptic and neurodevelopmental phenotype-Reference-Cited by-同舟云学术

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

Published:2022-02-12 Issue:4 Volume:63 Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Vogel Florian D.¹^ORCID,Krenn Martin²³^ORCID,Westphal Dominik S.³⁴^ORCID,Graf Elisabeth³,Wagner Matias³⁵⁶⁷^ORCID,Leiz Steffen⁸,Koniuszewski Filip¹^ORCID,Augé‐Stock Maximilian¹,Kramer Georg¹,Scholze Petra¹^ORCID,Ernst Margot¹^ORCID

Affiliation:

1. Department of Pathobiology of the Nervous System Center for Brain Research Medical University Vienna Vienna Austria

2. Department of Neurology Medical University of Vienna Vienna Austria

3. Institute of Human Genetics School of Medicine Klinikum rechts der Isar Technical University of Munich Munich Germany

4. Department of Internal Medicine I School of Medicine Klinikum rechts der Isar Technical University of Munich Munich Germany

5. Institute of Neurogenomics Helmholtz Zentrum München Neuherberg Germany

6. Department of Pediatrics Dr. von Hauner Children's Hospital LMU University Hospital Munich Germany

7. Division of Pediatric Neurology LMU Center for Development and Children with Medical Complexity Ludwig‐Maximilians‐University Munich Munich Germany

8. Divison of Neuropediatrics Klinikum Dritter Orden Munich Germany

Funder

Austrian Science Fund

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17188

Reference20 articles.

1. Spectrum of GABAA receptor variants in epilepsy

2. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study