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Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Myoclonic seizure, EEG abnormality, Global developmental delay, and Epileptic encephalopathy; and common findings: Bilateral tonic-clonic seizure, Nephrocalcinosis, Hypsarrhythmia, and Delayed CNS myelination and others. 32 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 18 | Bilateral tonic-clonic seizure, Inability to walk, Profound intellectual disability |
Muscles | 4 | Flexion contracture, Generalized hypotonia, Axial hypotonia |
Kidneys and urinary system | 1 | Nephrocalcinosis |
Bones and joints | 1 | Kyphoscoliosis |
Head and neck | 1 | Microcephaly |
Digestive system | 1 | Feeding difficulties |
SLC1A2 function has not been fully characterized.
Developmental and epileptic encephalopathy, 41 is caused by mutations in the SLC1A2 gene on chromosome 11.
Genetic testing for SLC1A2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 19 common features.
No clinical trials have been registered for developmental and epileptic encephalopathy, 41.
4 publications have been identified in PubMed for developmental and epileptic encephalopathy, 41. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Zhou X (2025). [PMID: 41449219](https://pubmed.ncbi.nlm.nih.gov/41449219/). *Scientific reports*. [Basic Science / Preclinical]
Innes EA (2025). [PMID: 40019827](https://pubmed.ncbi.nlm.nih.gov/40019827/). *Developmental medicine and child neurology*. [Review / Meta-Analysis]
Zhou X (2024). [PMID: 39091855](https://pubmed.ncbi.nlm.nih.gov/39091855/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Majjigudda RA (2024). [PMID: 39600756](https://pubmed.ncbi.nlm.nih.gov/39600756/). *Cureus*. [Case Report / Case Series]
AI-curated news mentioning developmental and epileptic encephalopathy, 41
Updated Feb 10, 2026
Research highlights citrate's potential as a diagnostic biomarker for SLC13A5-developmental and epileptic encephalopathy. This discovery could enhance early diagnosis and treatment strategies for affected patients.