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Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy

Authors
  • Coppola, Giangennaro1
  • Pastorino, Grazia Maria Giovanna1
  • Vetri, Luigi
  • D’Onofrio, Floriana1
  • Operto, Francesca Felicia1
  • 1 (F.F.O.)
Type
Published Article
Journal
Brain Sciences
Publisher
MDPI AG
Publication Date
Jun 15, 2020
Volume
10
Issue
6
Identifiers
DOI: 10.3390/brainsci10060372
PMID: 32549268
PMCID: PMC7349335
Source
PubMed Central
Keywords
Disciplines
  • Case Report
License
Green

Abstract

An Italian family with familial hemiplegic migraine (FHM) with the absence of mutations in the known genes associated with this disorder, namely ATP1A2 , ATP1A3 , CACNA1A , and SCN1A , has recently been reported. Soon afterward, whole exome sequencing allowed the identification of the carrier status of a heterozygous ATP1A4 mutation c.1798 C >T, in four affected members of this family. Here we compare the clinical symptoms of the affected family members with those from the other FHM families linked to mutations in the known genes associated with this disorder. A further two-year follow-up, including clinical response to carbamazepine administered to the proband and the maternal grandmother due to a worsening of the migraine symptoms, is reported. The clinical condition of the proband’s brother, carrying the same mutation and suffering from congenital ventricular and supraventricular extrasystoles, isdiscussed as well.

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