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Papers of the Week

2020 Jun 15

Brain Sci



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


Coppola G, Pastorino G M G, Vetri L, D'Onofrio F, Operto F F
Brain Sci. 2020 Jun 15; 10(6).
PMID: 32549268.


An Italian family with familial hemiplegic migraine (FHM) with the absence of mutations in the known genes associated with this disorder, namely , , , and , has recently been reported. Soon afterward, whole exome sequencing allowed the identification of the carrier status of a heterozygous 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.