SCN1A gain of function in early infantile encephalopathy-Reference-Cited by-同舟云学术

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SCN1A gain of function in early infantile encephalopathy

Published:2019-03-07 Issue:4 Volume:85 Page:514-525
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol

Author:

Berecki Géza¹^ORCID,Bryson Alexander¹,Terhag Jan¹,Maljevic Snezana¹,Gazina Elena V.¹,Hill Sean L.²,Petrou Steven¹³

Affiliation:

1. Ion Channels and Disease Group, Florey Institute of Neuroscience and Mental HealthUniversity of Melbourne Parkville Victoria Australia

2. Blue Brain ProjectSwiss Federal Institute of Technology in Lausanne Geneva Switzerland

3. Department of MedicineRoyal Melbourne Hospital, University of Melbourne Parkville Victoria Australia

Funder

Department of Health, State Government of Victoria

National Health and Medical Research Council

Centre of Excellence for Integrative Brain Function, Australian Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25438

Reference43 articles.

1. De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

2. SCN1Amutations and epilepsy

3. Dravet Syndrome: Diagnosis and Long-Term Course

4. Quality of life and comorbidities associated with Dravet syndrome severity: a multinational cohort survey

5. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

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3. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes;International Journal of Molecular Sciences;2024-02-01

4. Brain expression profiles of two SCN1A antisense RNAs in children and adolescents with epilepsy;Translational Neuroscience;2024-01-01

5. Voltage-Gated Sodium Channels as Drug Targets in Epilepsy-Related Sodium Channelopathies;Ion Channels as Targets in Drug Discovery;2024

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