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Article

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

9 Jul 2018

Abstract excerpt

The SCN1A gene encodes for the voltage-dependent Nav1.1 Na+ channel, an isoform mainly expressed in GABAergic neurons that is the target of hundreds of epileptogenic mutations. More recently, it has been shown that the SCN1A gene is also the target of mutations responsible for familial hemiplegic migraine (FHM-3) a rare autosomal dominant subtype of migraine with aura. Studies of these mutations indicate that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30038559
DOI: 10.3389/fnmol.2018.00232

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