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  1. Article

    Open Access

    Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

    Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA...

    Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo… in Scientific Reports (2017)

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  2. Article

    Open Access

    GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

    De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, pr...

    Anna Marcé-Grau, James Dalton, Javier López-Pisón… in Orphanet Journal of Rare Diseases (2016)

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  3. Article

    Open Access

    Two-stage case-control association study of dopamine-related genes and migraine

    We previously reported risk haplotypes for two genes related with serotonin and dopamine metabolism: MAOA in migraine without aura and DDC in migraine with aura. Herein we investigate the contribution to migraine...

    Roser Corominas, Marta Ribases, Montserrat Camiña… in BMC Medical Genetics (2009)

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  4. No Access

    Article

    Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred

    We sought to map the disease-causing gene in a large Spanish kindred with familial hemiplegic migraine (FHM). Patients were classified according to the ICHD-II criteria. After ruling out linkage to known migra...

    Ester Cuenca-León, Roser Corominas, Magda Montfort, Josep Artigas… in neurogenetics (2009)