Ontology highlight
ABSTRACT:
SUBMITTER: Carreno O
PROVIDER: S-EPMC3865589 | biostudies-literature | 2013 Nov
REPOSITORIES: biostudies-literature
Carreño Oriel O Corominas Roser R Serra Selma Angèlica SA Sintas Cèlia C Fernández-Castillo Noèlia N Vila-Pueyo Marta M Toma Claudio C Gené Gemma G GG Pons Roser R Llaneza Miguel M Sobrido María-Jesús MJ Grinberg Daniel D Valverde Miguel Ángel MÁ Fernández-Fernández José Manuel JM Macaya Alfons A Cormand Bru B
Molecular genetics & genomic medicine 20130702 4
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 CACN ...[more]