Developmental and Epileptic Encephalopathy 98

Preferred Label : Developmental and Epileptic Encephalopathy 98;

NCIt synonyms : DEE98;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the ATP1A2 gene, encoding sodium/potassium-transporting ATPase subunit alpha-2.;

Détails

Origin ID

C217085;

Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- ATP1A2 Gene [NCIt concept]

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