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developmental and epileptic encephalopathy, 41

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.
Uniprot Description A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE41 inheritance is autosomal dominant.
Disease Ontology Description An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.
Mondo Term and Equivalent IDs
MONDO:0014916:  developmental and epileptic encephalopathy, 41
UMLS:C4310717: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)