developmental and epileptic encephalopathy, 43
Findings
No curated finding names developmental and epileptic encephalopathy, 43 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 GABRB3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014921), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
11 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 4 reported patients
- Infantile spasmsHPOHP:0012469
- 3 of 4 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 4 reported patients
- Atypical absence seizureHPOHP:0007270
- 2 of 4 reported patients
- ImpulsivityHPOHP:0100710
- 2 of 4 reported patients
- Myoclonic seizureHPOHP:0032794
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.
- GABRB3HGNC:4083
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 43
- Also called
- DEE43developmental and epileptic encephalopathy 43early infantile epileptic encephalopathy caused by mutation in GABRB3EIEE43epileptic encephalopathy, early infantile, 43epileptic encephalopathy, early infantile, 43; EIEE43epileptic encephalopathy, early infantile, type 43GABRB3 early infantile epileptic encephalopathy