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2013-11

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cc-by (c) Carreño, Oriel et al., 2013
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/53301

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies

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http://dx.doi.org/10.1002/mgg3.24

Resum

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.

Matèries

Migranya, Genètica humana, Genètica mèdica, Cefalàlgia

Matèries (anglès)

Migraine, Human genetics, Medical genetics, Headache

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Articles publicats en revistes (Genètica, Microbiologia i Estadística)
<b>Publicacions de projectes de recerca finançats per la UE</b>

Citació

CARREÑO, Oriel, COROMINAS CASTIÑEIRA, Roser, SERRA, Selma angèlica, SINTAS VIVES, Cèlia, FERNÀNDEZ CASTILLO, Noèlia, 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. Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies. _Molecular Genetics & Genomic Medicine_. 2013. Vol. 1, núm. 4, pàgs. 206-222. [consulta: 25 de febrer de 2026]. ISSN: 2324-9269. [Disponible a: https://hdl.handle.net/2445/53301]

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