developmental and epileptic encephalopathy, 41
Findings
No curated finding names developmental and epileptic encephalopathy, 41 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 SLC1A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014916), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
23 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.
- EEG abnormalityHPOHP:0002353
- 3 of 3 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Myoclonic seizureHPOHP:0032794
- 3 of 3 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 3 reported patients
- Focal tonic seizureHPOHP:0011167
Show the remaining 11
- Babinski signHPOHP:0003487
- 1 of 3 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 3 reported patients
- Delayed eruption of teethHPOHP:0000684
- 1 of 3 reported patients
- Epileptic spasmHPOHP:0011097
- 1 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 3 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.
- SLC1A2HGNC:10940
- Definitive · ClinGen · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 41
- Also called
- DEE41developmental and epileptic encephalopathy 41early infantile epileptic encephalopathy caused by mutation in SLC1A2EIEE41epileptic encephalopathy, early infantile, 41epileptic encephalopathy, early infantile, 41; EIEE41epileptic encephalopathy, early infantile, type 41SLC1A2 early infantile epileptic encephalopathy