SLC6A1-Associated Myoclonic-Atonic Epilepsy

Preferred Label : SLC6A1-Associated Myoclonic-Atonic Epilepsy;

NCIt definition : Myoclonic-atonic epilepsy caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1.;

NCI Metathesaurus CUI : CL1905170;

Details

Origin ID

C191771;

UMLS CUI

C5784721;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

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