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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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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. |
format | Online Article Text |
id | pubmed-7349335 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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