Associated Papers
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
The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.
Condliffe SB et al.
The Journal of Biological Chemistry, 2013
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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