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Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3

โœ Scribed by J. Jay Gargus; Anne Tournay


Book ID
116825206
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
71 KB
Volume
37
Category
Article
ISSN
0887-8994

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The novel p.L1649Q mutation in the SCN1A
โœ Kaate R.J. Vanmolkot; Elena Babini; Boukje de Vries; Anine H. Stam; Tobias Freil ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 492 KB

Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a