期刊
CEPHALALGIA
卷 28, 期 10, 页码 1039-1047出版社
SAGE PUBLICATIONS LTD
DOI: 10.1111/j.1468-2982.2008.01645.x
关键词
mutation analysis; CACNA1A gene; hemiplegic migraine; childhood periodic syndromes; basilar-type migraine
资金
- Spanish Ministry of Education and Science [SAF-2000/197, SAF-2003/04704]
- Red Espanola de Ataxias
- Fondo de Investigacion Sanitaria [G03/056, PI052129]
- Instituto de Salud Carlos III, Spain [PI061073, PI050996]
- Fundacio la Marato de TV3 [061330]
- AGAUR [2005SGR00848]
Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in < 15% of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.
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