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Developmental and epileptic encephalopathy, 16
rareA developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
- Identifiers
- MONDO:0014133 OMIM:615338
- Causal genes
- TBC1D24
- Part of
- Malignant migrating partial seizures of infancyNeonatal-onset developmental and epileptic encephalopathy
- Also known as
- DEE16 · developmental and epileptic encephalopathy 16 · EIEE16 · epileptic encephalopathy, early infantile, 16 · epileptic encephalopathy, early infantile, type 16
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