developmental and epileptic encephalopathy 114
MONDO:0958331Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 114 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
37 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.
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Developmental regressionHPOHP:0002376
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Sleep disturbanceHPOHP:0002360
- 3 of 3 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 4 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 3 of 4 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- Atonic seizureHPOHP:0010819
- 2 of 4 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 4 reported patients
Show the remaining 25
- ChoreaHPOHP:0002072
- 2 of 4 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 4 reported patients
- Self-injurious behaviorHPOHP:0100716
- 1 of 2 reported patients
- Abnormal hair whorlHPOHP:0010721
- 1 of 4 reported patients
- Atypical absence seizureHPOHP:0007270
- 1 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 4 reported patients
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.
- SLC32A1HGNC:11018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025