Patients with these variants have been reported in the literature or reported by a family in our community to have experienced a hemiplegic migraine event. We recommend patients with one of these variants carefully review all of our resources and be prepared for an event with a written emergency plan.

Patients with gain-of-function variants are more susceptible to hemiplegic-migraines.

Sources

Beauvais K, Cavé-Riant F, De Barace C, Tardieu M, Tournier-Lasserve E, Furby A. New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus. Eur Neurol. 2004;52(1):58–61.

Romozzi M, Primiano G, Rollo E, Travaglini L, Calabresi P, Servidei S, Vollono C. CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report. J Headache Pain. 2021 Jul 28;22(1):85. doi: 10.1186/s10194-021-01297-5. PMID: 34320921; PMCID: PMC8317284.

Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R, Ferrari M. Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. Arch Neurol. 2002 Jun;59(6):1016-8. doi: 10.1001/archneur.59.6.1016. PMID: 12056940.

Tyagi S, Ribera AB and Bannister RA (2020) Zebrafish as a Model System for the Study of Severe CaV2.1 (1A) Channelopathies. Front. Mol. Neurosci. 12:329. doi: 10.3389/fnmol.2019.00329.

van den Maagdenberg AM, Pietrobon D, Pizzorusso T, et al. A CACNA1A knockin migraine mouse model with increased susceptibility to cortical spreading depression. Neuron. 2004;41(5):701–710.

Zhang L, Wen Y, Zhang Q, Chen Y, Wang J, Shi K, Du L, Bao X. CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes. Front Pediatr. 2020 Dec 3;8:577544. doi: 10.3389/fped.2020.577544. PMID: 33425808; PMCID: PMC7793878.

The resources on this page are evolving as our panel makes progress on a consensus for treatment guidelines. Given the potential consequences of CACNA1A-related hemiplegic migraines, we felt a sense of urgency to provide an immediate resource for families and their physicians. Please return to this page for updated guidelines and additional resources in the near future. The contents of this guide are not intended to substitute for professional medical advice, diagnosis or treatment. Please consult your physician for personalized medical advice.