Browsing by Author "Toma, Claudio"

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  • Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
    Sintas, Cèlia; Carreño, Oriel; Fernández Castillo, Noelia; Corominas, Roser; Vila Pueyo, Marta; Toma, Claudio; Cuenca-León, Ester; Barroeta, Isabel; Roig, Carles; Volpini, Victor; Macaya, Alfons; Cormand, Bru (Nature Publishing Group, 2017)
    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 (EA2) when it ...
  • Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
    Carreño, Oriel; Corominas, Roser; Serra Pascual, Selma A., 1981-; Sintas, Cèlia; Fernández Castillo, Noelia; Vila Pueyo, Marta; Toma, Claudio; Gené, Gemma; Pons, Roser; Llaneza, Miguel; Sobrido, María Jesús; Grinberg, Daniel; Valverde, M. A. (Miguel Ángel), 1963-; Fernández-Fernández, José Manuel, 1967-; Macaya, Alfons; Cormand, Bru (Wiley, 2013)
    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 ...

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