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

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...

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Autores principales: Coppola, Giangennaro, Pastorino, Grazia Maria Giovanna, Vetri, Luigi, D’Onofrio, Floriana, Operto, Francesca Felicia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349335/
https://www.ncbi.nlm.nih.gov/pubmed/32549268
http://dx.doi.org/10.3390/brainsci10060372
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author Coppola, Giangennaro
Pastorino, Grazia Maria Giovanna
Vetri, Luigi
D’Onofrio, Floriana
Operto, Francesca Felicia
author_facet Coppola, Giangennaro
Pastorino, Grazia Maria Giovanna
Vetri, Luigi
D’Onofrio, Floriana
Operto, Francesca Felicia
author_sort Coppola, Giangennaro
collection PubMed
description 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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spelling pubmed-73493352020-07-22 Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy Coppola, Giangennaro Pastorino, Grazia Maria Giovanna Vetri, Luigi D’Onofrio, Floriana Operto, Francesca Felicia Brain Sci Case Report 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. MDPI 2020-06-15 /pmc/articles/PMC7349335/ /pubmed/32549268 http://dx.doi.org/10.3390/brainsci10060372 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Coppola, Giangennaro
Pastorino, Grazia Maria Giovanna
Vetri, Luigi
D’Onofrio, Floriana
Operto, Francesca Felicia
Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
title Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
title_full Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
title_fullStr Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
title_full_unstemmed Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
title_short Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy
title_sort familial hemiplegic migraine with an atp1a4 mutation: clinical spectrum and carbamazepine efficacy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7349335/
https://www.ncbi.nlm.nih.gov/pubmed/32549268
http://dx.doi.org/10.3390/brainsci10060372
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