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developmental and epileptic encephalopathy 52
Summary
- Synonym
-
- DEE52
- early infantile epileptic encephalopathy 52
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080455
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07699 | Sodium channel regulatory subunit beta-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012554 | Absent thumbnail |
| HP:0100660 | Dyskinesia |
| HP:0100716 | Self-injurious behavior |
