CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood
| Autor: | Rune R. Frants, I. B. Ginjaar, G.M. Terwindt, JP Haas, B. B. A. De Vries, Laem Laan, Amjm van den Maagdenberg, Ferrari, K R J Vanmolkot, Joost Haan, AH Stam, Friederike Beker, H Lauffer |
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| Rok vydání: | 2008 |
| Předmět: |
Male
medicine.medical_specialty Adolescent Genetic Linkage Migraine Disorders Monozygotic twin Hemiplegia Bioinformatics Genetic linkage medicine Humans In patient Genetic Predisposition to Disease Familial hemiplegic migraine business.industry Alternating hemiplegia of childhood General Medicine Twins Monozygotic medicine.disease Surgery Mutation (genetic algorithm) Mutation Mutation testing Hemiplegic migraine Neurology (clinical) Calcium Channels business |
| Zdroj: | Cephalalgia : an international journal of headache. 28(8) |
| ISSN: | 1468-2982 |
| Popis: | Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia. |
| Databáze: | OpenAIRE |
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