developmental and epileptic encephalopathy, 24
Findings
No curated finding names developmental and epileptic encephalopathy, 24 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 HCN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014377), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Generalized non-motor (absence) seizureHPOHP:0002121
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 5 of 6 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 6 reported patients
- Focal-onset seizureHPOHP:0007359
- 4 of 6 reported patients
- Myoclonic seizure
Show the remaining 1
- Epileptic encephalopathyHPOHP:0200134
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.
- HCN1HGNC:4845
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
7 names
Resolves to: developmental and epileptic encephalopathy, 24
- Also called
- DEE24developmental and epileptic encephalopathy 24early infantile epileptic encephalopathy caused by mutation in HCN1EIEE24epileptic encephalopathy, early infantile, 24epileptic encephalopathy, early infantile, type 24HCN1 early infantile epileptic encephalopathy