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PubMed 21768184


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Automatically associated channels: Cav2.1



Title: Head tremor related to CACNA1A mutations.

Authors: Rianne P J Geerlings, Peter J Koehler, Danielle Y P Haane, Anine H Stam, Boukje de Vries, Elles M J Boon, Joost Haan

Journal, date & volume: Cephalalgia, 2011 Sep , 31, 1315-9

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21768184


Abstract
Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1-3 mutation carriers, including epilepsy and cerebellar symptoms.We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carried a mutation in the CACNA1A gene.CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.