Associated Papers
Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?
Di Micco V et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.
Elkhateeb N et al.
Clinical Genetics, 2024
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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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