<scp> <i>SCN1A</i> </scp> gain‐of‐function mutation causing an early onset epileptic encephalopathy-Reference-Cited by-同舟云学术

SCN1A gain‐of‐function mutation causing an early onset epileptic encephalopathy

Published:2022-11-14 Issue: Volume: Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Clatot Jérôme¹²,Parthasarathy Shridhar¹²³^ORCID,Cohen Stacey¹²³^ORCID,McKee Jillian L.¹²^ORCID,Massey Shavonne¹²,Somarowthu Ala¹,Goldberg Ethan M.¹³⁴⁵^ORCID,Helbig Ingo¹²³⁴^ORCID

Affiliation:

1. Division of Neurology, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Epilepsy NeuroGenetics Initiative Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Biomedical Health Informatics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Department of Neurology University of Pennsylvania School of Medicine Philadelphia Pennsylvania USA

5. Department of Neuroscience University of Pennsylvania School of Medicine Philadelphia Pennsylvania USA

Funder

Burroughs Wellcome Fund

Hartwell Foundation

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17444

Reference43 articles.

1. Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics

2. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

3. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

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