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Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy.
Brain Sci. 2020 Jun 15; 10(6)BS

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.

Authors+Show Affiliations

Clinic of Child and Adolescent Neuropsychiatry, Department of Medicine, Surgery and Dentistry, Medical School University of Salerno, 84100 Salerno, Italy.Clinic of Child and Adolescent Neuropsychiatry, Department of Medicine, Surgery and Dentistry, Medical School University of Salerno, 84100 Salerno, Italy.Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, 90133 Palermo, Italy.Clinic of Child and Adolescent Neuropsychiatry, Department of Medicine, Surgery and Dentistry, Medical School University of Salerno, 84100 Salerno, Italy.Clinic of Child and Adolescent Neuropsychiatry, Department of Medicine, Surgery and Dentistry, Medical School University of Salerno, 84100 Salerno, Italy.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

32549268

Citation

Coppola, Giangennaro, et al. "Familial Hemiplegic Migraine With an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy." Brain Sciences, vol. 10, no. 6, 2020.
Coppola G, Pastorino GMG, Vetri L, et al. Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy. Brain Sci. 2020;10(6).
Coppola, G., Pastorino, G. M. G., Vetri, L., D'Onofrio, F., & Operto, F. F. (2020). Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy. Brain Sciences, 10(6). https://doi.org/10.3390/brainsci10060372
Coppola G, et al. Familial Hemiplegic Migraine With an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy. Brain Sci. 2020 Jun 15;10(6) PubMed PMID: 32549268.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy. AU - Coppola,Giangennaro, AU - Pastorino,Grazia Maria Giovanna, AU - Vetri,Luigi, AU - D'Onofrio,Floriana, AU - Operto,Francesca Felicia, Y1 - 2020/06/15/ PY - 2020/05/22/received PY - 2020/06/09/revised PY - 2020/06/12/accepted PY - 2020/6/19/entrez PY - 2020/6/19/pubmed PY - 2020/6/19/medline KW - ATP1A4 gene KW - carbamazepine KW - clinical symptoms KW - familial hemiplegic migraine JF - Brain sciences JO - Brain Sci VL - 10 IS - 6 N2 - 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. SN - 2076-3425 UR - https://www.unboundmedicine.com/medline/citation/32549268/Familial_Hemiplegic_Migraine_with_an_ATP1A4_Mutation:_Clinical_Spectrum_and_Carbamazepine_Efficacy L2 - https://www.mdpi.com/resolver?pii=brainsci10060372 DB - PRIME DP - Unbound Medicine ER -
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