developmental and epileptic encephalopathy, 14
Findings
No curated finding names developmental and epileptic encephalopathy, 14 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 KCNT1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013989), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset · Progressive
HPO, annotations 2026-09-02
Features
24 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.
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 8 of 8 reported patients
- Focal motor seizureHPOHP:0011153
- 4 of 4 reported patients
- Generalized-onset motor seizureHPOHP:0032677
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 12 of 12 reported patients
- Interictal epileptiform activityHPOHP:0011182
- 2 of 2 reported patients
- Profound global developmental delayHPO
Show the remaining 12
- MicrocephalyHPOHP:0000252
- 4 of 8 reported patients
- Focal autonomic seizureHPOHP:0011154
- 5 of 12 reported patients
- Reduced eye contactHPOHP:0000817
- Occasional (5% to 29% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- 3 of 8 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 3 of 8 reported patients
- Generalized tonic seizureHPOHP:0010818
- 3 of 8 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.
- KCNT1HGNC:18865
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
7 names
Resolves to: developmental and epileptic encephalopathy, 14
- Also called
- DEE14developmental and epileptic encephalopathy 14early infantile epileptic encephalopathy caused by mutation in KCNT1EIEE14epileptic encephalopathy, early infantile, 14epileptic encephalopathy, early infantile, type 14KCNT1 early infantile epileptic encephalopathy