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developmental and epileptic encephalopathy 45
Summary
- Synonym
-
- DEE45
- early infantile epileptic encephalopathy 45
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080428
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P18505 | Gamma-aminobutyric acid receptor subunit beta-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011443 | Abnormality of coordination |
| HP:0002376 | Developmental regression |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0004305 | Involuntary movements |
| HP:0100710 | Impulsivity |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0002509 | Limb hypertonia |
| HP:0012444 | Brain atrophy |
