C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A01K 67/027 (2006.01) C07K 14/705 (2006.01) C07K 16/18 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/68 (2006.01)
Patent
CA 2267221
Genes for familial hemeplegic migraine (FHM), episodic ataxia type-2 (EA-2), common forms of migraine, and other episodic neurological disorders, such as epilepsy, have been mapped to chromosome 19p13 and chromosome 10p12. A brain- specific P/Q-type calcium channel subunit gene, covering 300 kb with 47 exons is provided. The exons and their surroundings reveal polymorphic variations and deleterious mutations that are linked to various types of calcium channel dysfunctions causing episodic neurological disorders in man or animals.
On a cartographié sur le chromosome 19p13 et sur le chromosome 10p12 des gènes de la migraine hémiplégique familiale, de l'ataxie épisodique de type-2 (EA-2), de formes communes de migraine et d'autres troubles neurologiques épisodiques. L'invention concerne un gène d'une sous-unité de canaux à calcium du type P/Q, spécifique du cerveau et possédant 47 exons répartis sur 300 kb. Les exons et leur environnement révèlent des variations polymorphes et des mutations délétères qui sont liées aux divers types de dysfonctionnement des canaux à calcium provoquant des troubles neurologiques épisodiques chez l'homme et chez l'animal.
Ferrari Michel Dominique
Frants Rune Robert Isak Erik
Ophoff Roel Andre
Terwindt Gisela Marie
Borden Ladner Gervais Llp
Rijksuniversiteit Te Leiden
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