Neurobiology of Disease Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Nav1.1 (SCN1A) Na Channel
نویسندگان
چکیده
Sandrine Cestèle,1,2 Paolo Scalmani,1 Raffaella Rusconi,1 Benedetta Terragni,1 Silvana Franceschetti,1 and Massimo Mantegazza1,3 1Department of Neurophysiopathology, Besta Neurological Institute, 20133 Milan, Italy, 2Inserm U836 (Equipe 3), Institute of Neurosciences, 38054 Grenoble, France, and 3Equipe Avenir Inserm, Institut Fédératif de Recherche 95-Saints-Pères, Université Paris 5–Descartes, 75006 Paris, France
منابع مشابه
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.
Familial hemiplegic migraine (FHM) is an autosomal dominant inherited subtype of severe migraine with aura. Mutations causing FHM (type 3) have been identified in SCN1A, the gene encoding neuronal voltage-gated Na(v)1.1 Na(+) channel alpha subunit, but functional studies have been done using the cardiac Na(v)1.5 isoform, and the observed effects were similar to those of some epileptogenic mutat...
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Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. A mutation causing FHM type 3 (FHM3) has been identified in SCN1A encoding the Nav1.1 Na(+) channel. This genetic defect affects the inactivation gate. While the Na(+) tail currents following voltage steps are consistent with both hyperexcitability and hypoexcitability, in this computational study, we investigate functi...
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Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Mutations causing FHM type 3 have been identified in SCN1A, the gene encoding the Nav1.1 Na(+) channel, which is also a major target of epileptogenic mutations and is particularly important for the excitability of GABAergic neurons. However, functional studies of NaV1.1 FHM mutations have generated controversial results...
متن کاملEarly-onset familial hemiplegic migraine due to a novel SCN1A mutation
Introduction Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. The FHM3 subtype is caused by mutations in SCN1A, which is also the most frequent epilepsy gene encoding the voltage-gated Na+ channel NaV1.1. The aim of this study was to explore the clinical, genetic and pathogenetic features of a pure FHM3 family. Methods A three-generation family was ...
متن کاملMigraine genetics: Part II.
Migraine clusters in families and is considered to be a strongly heritable disorder. Hemiplegic migraine is a rare subtype of migraine with aura that may occur as a familial or a sporadic condition. Three genes have been identified studying families with familial hemiplegic migraine (FHM). The first FHM gene that was identified is CACNA1A. A second gene, FHM2, has been mapped to chromosome 1 q ...
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