Associated Papers
CSMD1 as a causative gene of developmental and epileptic encephalopathy and generalized epilepsies.
Zhang W et al.
Genes & Diseases, 2025
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Werren EA et al.
Cell Death & Disease, 2024
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
35511137 (PubMed )
Supplement: mmc1.xls › supplementary_table4
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study.
Costanzo F et al.
International Journal of Environmental Research and Public Health, 2022
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bagnall RD et al.
Bmc Medical Genetics, 2014
25224718 (PubMed )
Supplement: 12881_2014_99_MOESM2_ESM.xlsx › Supplementary_Table_2
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