Associated Papers
Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations, Not CAG Repeat Expansions.
Duque KR et al.
Cerebellum (london, England), 2021
CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.
Zhang L et al.
Frontiers in Pediatrics, 2020
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang X et al.
Epilepsia, 2019
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
Bahamonde MI et al.
Plos One, 2015
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.
Cuenca-León E et al.
Cephalalgia : an International Journal of Headache, 2008
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