developmental and epileptic encephalopathy, 11
Findings
No curated finding names developmental and epileptic encephalopathy, 11 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 SCN2A gene.
Definition from the Mondo Disease Ontology (MONDO:0013388), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
7 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.
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- Epileptic encephalopathyHPOHP:0200134
- 1 of 1 reported patient
- Global brain atrophyHPOHP:0002283
- 1 of 1 reported patient
- Hyperkinetic movementsHPOHP:0002487
- 1 of 1 reported patient
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Severe intellectual disabilityHPO
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.
- SCN2AHGNC:10588
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
6 names
Resolves to: developmental and epileptic encephalopathy, 11
- Also called
- DEE11developmental and epileptic encephalopathy 11early infantile epileptic encephalopathy caused by mutation in SCN2AEIEE11epileptic encephalopathy, early infantile, 11SCN2A early infantile epileptic encephalopathy