Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 777
Gene Symbol: CACNA1E
CACNA1E
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker GENOMICS_ENGLAND Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. 30343943

2018