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Title: Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies
Author: Carreño, Oriel
Corominas Castiñeira, Roser
Serra, Selma Angèlica
Sintas Vives, Cèlia
Fernández Castillo, Noelia
Vila Pueyo, Marta
Toma, Claudio
González Gené, Gemma
Pons, Roser
Llaneza, Miguel
Sobrido, María Jesús
Grinberg Vaisman, Daniel Raúl
Valverde, Miguel Ángel
Fernández-Fernández, José Manuel
Macaya Ruiz, Alfons
Cormand Rifà, Bru
Keywords: Migranya
Genètica humana
Genètica mèdica
Human genetics
Medical genetics
Issue Date: Nov-2013
Publisher: Wiley
Abstract: Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial and in sporadic cases. This genetically and clinically heterogeneous disorder is often accompanied by permanent ataxia, epileptic seizures, mental retardation, and chronic progressive cerebellar atrophy. Here we report a mutation screening in the CACNA1A and ATP1A2 genes in 18 patients with HM. Furthermore, intragenic copy number variant (CNV) analysis was performed in CACNA1A using quantitative approaches. We identified four previously described missense CACNA1A mutations (p.Ser218Leu, p.Thr501Met, p.Arg583Gln, and p.Thr666Met) and two missense changes in the ATP1A2 gene, the previously described p.Ala606Thr and the novel variant p.Glu825Lys. No structural variants were found. This genetic screening allowed the identification of more than 30% of the disease alleles, all present in a heterozygous state. Functional consequences of the CACNA1A-p.Thr501Met mutation, previously described only in association with episodic ataxia, and ATP1A2-p.Glu825Lys, were investigated by means of electrophysiological studies, cell viability assays or Western blot analysis. Our data suggest that both these variants are disease-causing.
Note: Reproducció del document publicat a:
It is part of: Molecular Genetics & Genomic Medicine, 2013, vol. 1, num. 4, p. 206-222
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ISSN: 2324-9269
Appears in Collections:Articles publicats en revistes (Genètica, Microbiologia i Estadística)

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