Developmental and Epileptic Encephalopathy 18

Preferred Label : Developmental and Epileptic Encephalopathy 18;

NCIt synonyms : Early Infantile Epileptic Encephalopathy 18; DEE18; EIEE18;

NCIt definition : An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the KCNT1 gene, encoding SZT2 subunit of KICSTOR complex.;

NCI Metathesaurus CUI : CL1649069;

Details

Origin ID

C206098;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- KCNT1 Gene [NCIt concept]

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