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First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy

โœ Scribed by M-J Castro; AH Stam; C Lemos; B De Vries; KRJ Vanmolkot; J Barros; GM Terwindt; RR Frants; J Sequeiros; MD Ferrari; JM Pereira-Monteiro; AMJM Van Den Maagdenberg


Book ID
111092986
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
183 KB
Volume
29
Category
Article
ISSN
0333-1024

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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