Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine-Reference-Cited by-同舟云学术

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Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine

Published:2018-07-09 Issue: Volume:11 Page:
ISSN:1662-5099
Container-title:Frontiers in Molecular Neuroscience
language:
Short-container-title:Front. Mol. Neurosci.

Author:

Dhifallah Sandra,Lancaster Eric,Merrill Shana,Leroudier Nathalie,Mantegazza Massimo,Cestèle Sandrine

Funder

Agence Nationale de la Recherche

European Commission

Publisher

Frontiers Media SA

Subject

Cellular and Molecular Neuroscience,Molecular Biology

Reference42 articles.

1. Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum;Bechi;Neurobiol. Dis.,2015

2. Pure haploinsufficiency for Dravet syndrome NaV1.1 (SCN1A) sodium channel truncating mutations;Bechi;Epilepsia,2012

3. Pharmacological chaperones: potential treatment for conformational diseases;Bernier;Trends Endocrinol. Metab.,2004

4. Voltage-gated sodium channels at 60: structure, function and pathophysiology;Catterall;J. Physiol.,2012

5. Structure and function of voltage-gated sodium channels at atomic resolution;Catterall;Exp. Physiol.,2014

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1. The Dawn and Advancement of the Knowledge of the Genetics of Migraine;Journal of Clinical Medicine;2024-05-04

2. Genetics of migraine: complexity, implications, and potential clinical applications;The Lancet Neurology;2024-04

3. Brainstem depolarization–induced lethal apnea associated with gain-of-function SCN1A ^L263V is prevented by sodium channel blockade;Proceedings of the National Academy of Sciences;2024-03-28

4. Familial hemiplegic migraine;Handbook of Clinical Neurology;2024

5. Voltage‐gated sodium channels in genetic epilepsy: up and down of excitability;Journal of Neurochemistry;2023-08-31

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