Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v9.87 | CSNK1A1 |
Alexandra Njegic gene: CSNK1A1 was added gene: CSNK1A1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: CSNK1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK1A1 were set to 40156289 Phenotypes for gene: CSNK1A1 were set to Infantile spasms syndrome Penetrance for gene: CSNK1A1 were set to unknown Review for gene: CSNK1A1 was set to AMBER Added comment: PMID: 40156289 describes 2 unrelated families with de novo variants in CSNK1A1 (proband 1 harboured a small del variant, proband 2 harboured a missense variant, both were shown to have early-onset epileptic encephalopathy); confirmed variant on Sanger (obtained from WES). Mechanism of disease proposed to be due to reduced interactions between CSNK1A1 and β-catenin in variant CSNK1A1, resulting in excessive intracellular β-catenin and aberrant expression of several downstream genes. Only 2 families reported in the literature. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||