developmental and epileptic encephalopathy, 6A
MONDO:0100079Mondo
Findings
No curated finding names developmental and epileptic encephalopathy, 6A 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
HPO, annotations 2026-09-02
Features
15 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
- 7 of 7 reported patients
- Myoclonic seizureHPOHP:0032794
- Childhood onset
- 7 of 7 reported patients
- AtaxiaHPOHP:0001251
- 15 of 17 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- Childhood onset
- 4 of 7 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 4 of 7 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 7 reported patients
- Generalized clonic seizureHPOHP:0011169
- 2 of 7 reported patients
- Focal aware seizureHPOHP:0002349
- 1 of 7 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 7 reported patients
- Abnormal pyramidal signHPOHP:0007256
- Childhood onset
- Atonic seizureHPOHP:0010819
- Childhood onset
- Developmental regressionHPOHP:0002376
- Childhood onset
Show the remaining 3
- Epileptic encephalopathyHPOHP:0200134
- Global developmental delayHPOHP:0001263
- Visually-induced seizureHPOHP:0020216
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.
- SCN1AHGNC:10585
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: developmental and epileptic encephalopathy, 6A
- Also called
- DEE6AEIEE6epileptic encephalopathy, early infantile, 6