developmental and epileptic encephalopathy, 19
Findings
No curated finding names developmental and epileptic encephalopathy, 19 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 GABRA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014328), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
32 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.
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 4 of 4 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- EEG with focal sharp wavesHPOHP:0011196
Show the remaining 20
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Mild global developmental delayHPOHP:0011342
- 2 of 2 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 1 reported patient
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.
- GABRA1HGNC:4075
- Definitive · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 19
- Also called
- DEE19developmental and epileptic encephalopathy 19Early Infantile epileptic encephalopathy 19early infantile epileptic encephalopathy caused by mutation in GABRA1EIEE19epileptic encephalopathy, early infantile, 19epileptic encephalopathy, early infantile, type 19GABRA1 early infantile epileptic encephalopathy