Referenced in: none

Automatically associated channels: Cav2.1

Title: Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.

Authors: José Barros, Augusto Ferreira, Ana F Brandão, Carolina Lemos, Fernando Correia, Joana Damásio, Assunção Tuna, Jorge Sequeiros, Paula Coutinho, Isabel Alonso, José Pereira-Monteiro

Journal, date & volume: Cephalalgia, 2014 Oct , 34, 1015-20

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24646837

Abstract
SCN1A is the most relevant gene in epilepsy. Only seven SCN1A mutations have been identified in 10 familial hemiplegic migraine (FHM) kindreds worldwide.In 2009, we presented a kindred with FHM due to the L263V SCN1A mutation. In the current study, we report a novel FHM3 kindred from the same village. The first family exhibited the co-occurrence of FHM and epilepsy. No case of epilepsy was observed in the new kindred. An L263V mutation was found in all patients, and the haplotype analysis supports a unique mutational event.Despite its bioelectric activity, the SCN1A L263V mutation most likely requires a combination of several endogenous or environmental induction stimuli to attain an epileptogenic threshold.