developmental and epileptic encephalopathy, 25
Findings
No curated finding names developmental and epileptic encephalopathy, 25 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 SLC13A5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014392), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
8 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.
- Absent speechHPOHP:0001344
- 8 of 8 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- Status epilepticusHPOHP:0002133
- 5 of 6 reported patients
- Limb hypertoniaHPOHP:0002509
- 5 of 7 reported patients
- ChoreoathetosisHPOHP:0001266
- 2 of 8 reported patients
- DystoniaHPOHP:0001332
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.
- SLC13A5HGNC:23089
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 25
- Also called
- DEE25early infantile epileptic encephalopathy 25early infantile epileptic encephalopathy caused by mutation in SLC13A5EIEE25epileptic encephalopathy, early infantile, 25epileptic encephalopathy, early infantile, type 25SLC13A5 Citrate Transporter DisorderSLC13A5 early infantile epileptic encephalopathy