Associated Papers
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ et al.
Jci Insight, 2023
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy.
Ortiz Cabrera NV et al.
Molecular Syndromology, 2021
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Helbig KL et al.
American Journal of Human Genetics, 2018
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