Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function-Reference-Cited by-同舟云学术

Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage‐gated sodium channel function

Published:2021-04-26 Issue:6 Volume:62 Page:
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Scala Marcello¹²,Efthymiou Stephanie²^ORCID,Sultan Tipu³,De Waele Jolien⁴,Panciroli Marta²,Salpietro Vincenzo¹²,Maroofian Reza²,Striano Pasquale¹⁵^ORCID,Van Petegem Filip⁶,Houlden Henry²,Bosmans Frank⁴^ORCID

Affiliation:

1. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health University of Genoa Genoa Italy

2. Department of Neuromuscular Disorders Institute of Neurology University College London London UK

3. Department of Pediatric Neurology Children's Hospital and Institute of Child Health Lahore Lahore Pakistan

4. Faculty of Medicine and Health Sciences Department of Basic and Applied Medical Sciences Ghent University Ghent Belgium

5. Pediatric Neurology and Muscular Diseases Unit G. Gaslini Institute Genoa Italy

6. Department of Biochemistry and Molecular Biology Life Sciences Institute University of British Columbia Vancouver British Columbia Canada

Funder

Brain Research UK

Canadian Institutes of Health Research

Multiple System Atrophy Trust

Medical Research Council

National Institute of Neurological Disorders and Stroke

Muscular Dystrophy UK

Muscular Dystrophy Association

Rosetrees Trust

Ataxia UK

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.16913

Reference18 articles.

1. SCN1B‐linked early infantile developmental and epileptic encephalopathy

2. A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome

3. A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

4. Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy

5. Sodium Channel β Subunits: Emerging Targets in Channelopathies

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