developmental and epileptic encephalopathy, 45
Findings
No curated finding names developmental and epileptic encephalopathy, 45 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014942), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient · Childhood onset
- Epileptic encephalopathyHPOHP:0200134
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- HypotoniaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GABRB1HGNC:4081
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 45
- Also called
- DEE45developmental and epileptic encephalopathy 45early infantile epileptic encephalopathy caused by mutation in GABRB1EIEE45epileptic encephalopathy, early infantile, 45epileptic encephalopathy, early infantile, 45; EIEE45epileptic encephalopathy, early infantile, type 45GABRB1 early infantile epileptic encephalopathy