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RESEARCH PRODUCT
Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
Francesca Felicia OpertoLuigi VetriGiangennaro CoppolaFloriana D'onofrioGrazia Maria Giovanna Pastorinosubject
ProbandPediatricsmedicine.medical_specialtyATP1A4 genefamilial hemiplegic migraine; ATP1A4 gene; carbamazepine; clinical symptomsCase Reportmedicine.disease_causelcsh:RC321-57103 medical and health sciences0302 clinical medicineATP1A2ATP1A3medicine<i>ATP1A4</i> genefamilial hemiplegic migrainelcsh:Neurosciences. Biological psychiatry. NeuropsychiatryExome sequencingFamilial hemiplegic migraine030304 developmental biologyclinical symptoms0303 health sciencesMutationbusiness.industryGeneral NeuroscienceCarbamazepinemedicine.diseaseMigrainecarbamazepinebusiness030217 neurology & neurosurgerymedicine.drugdescription
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2020-06-01 | Brain Sciences |