Associated Papers
A Rare Case of Dual De Novo Mutations Presenting With Infantile Spasms, Congenital Contractures, and Axial Hypotonia.
Fakih H
Cureus, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
40290421 (PubMed )
Supplement: fcaf134_supplementary_data.zip › Dahlin_et_al._Supplementary_table_3_revised.xlsx › Bara_EP
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Dramatic response to lamotrigine in two patients with refractory epilepsy due to calcium channel mutations
Hu X et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Dystonia and Contractures are Potential Early Signs of CACNA1E-Related Epileptic Encephalopathy.
Ortiz Cabrera NV et al.
Molecular Syndromology, 2021
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
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
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E.
Carvill GL
Epilepsy Currents, 0
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