Clinical phenotypes of infantile onset CACNA1A-related disorder.

doi:10.1016/j.ejpn.2020.10.004

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Article

Clinical phenotypes of infantile onset CACNA1A-related disorder.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2021

Gur-Hartman Tamar, Berkowitz Oren, Yosovich Keren, Roubertie Agathe, Zanni Ginevra, Macaya Alfons, Heimer Gali, Dueñas Belén Pérez, Sival Deborah A, Pode-Shakked Ben, López-Laso Eduardo, Humbertclaude Véronique, Riant Florence, Bosco Luca, Cayron Lital Bachar, Nissenkorn Andreea, Nicita Francesco, Bertini Enrico, Hassin Sharon, Ben Zeev Bruria, Zerem Ayelet, Libzon Stephanie, Lev Dorit, Linder Ilan, Lerman-Sagie Tally, Blumkin Lubov

Abstract excerpt

BACKGROUND: CACNA1A-related disorders present with persistent progressive and non-progressive cerebellar ataxia and paroxysmal events: epileptic seizures and non-epileptic attacks. These phenotypes overlap and co-exist in the majority of patients. OBJECTIVE: To describe phenotypes in infantile onset CACNA1A-related disorder and to explore intra-familial variations and genotype-phenotype correlations. MATERIAL AND...

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PMID: 33349592
DOI: 10.1016/j.ejpn.2020.10.004

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