developmental and epileptic encephalopathy, 34
Findings
No curated finding names developmental and epileptic encephalopathy, 34 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 SLC12A5 gene.
Definition from the Mondo Disease Ontology (MONDO:0014718), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- Abnormal pyramidal signHPOHP:0007256
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- Cerebral atrophyHPOHP:0002059
- Delayed CNS myelinationHPOHP:0002188
- Excessive salivationHPOHP:0003781
- Focal hemiclonic seizureHPOHP:0006813
- Focal-onset seizureHPOHP:0007359
- Global developmental delayHPOHP:0001263
- Inability to walkHPO
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.
- SLC12A5HGNC:13818
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Illumina · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
8 names
Resolves to: developmental and epileptic encephalopathy, 34
- Also called
- DEE34developmental and epileptic encephalopathy 34early infantile epileptic encephalopathy caused by mutation in SLC12A5EIEE34epileptic encephalopathy, early infantile, 34epileptic encephalopathy, early infantile, 34; EIEE34epileptic encephalopathy, early infantile, type 34SLC12A5 early infantile epileptic encephalopathy