We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
- Authors
Costa, Cinzia; Prontera, Paolo; Sarchielli, Paola; Tonelli, Alessandra; Bassi, Maria Teresa; Cupini, Letizia Maria; Caproni, Stefano; Siliquini, Sabrina; Donti, Emilio; Calabresi, Paolo
- Abstract
Background: Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fullyreversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A,ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also maylead to epilepsy.Case: Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causingguanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine,four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalizedepilepsy with febrile seizures plus (GEFS+).Conclusions: The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine andepilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.
- Subjects
MIGRAINE; FAMILIAL diseases; HEMIPLEGICS; EPILEPSY research; HEAD diseases
- Publication
Cephalalgia, 2014, Vol 34, Issue 1, p68
- ISSN
0333-1024
- Publication type
Article
- DOI
10.1177/0333102413498941