developmental and epileptic encephalopathy, 52
MONDO:0033361Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 52 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Generalized myoclonic seizureHPOHP:0002123
- 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.
- SCN1BHGNC:10586
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: developmental and epileptic encephalopathy, 52
- Also called
- DEE52developmental and epileptic encephalopathy 52EIEE52epileptic encephalopathy, early infantile, 52