Search Ontology:
Human Disease

developmental and epileptic encephalopathy 42B

Term ID
DOID:0070842
Synonyms
  • DEE42B
Definition
A developmental and epileptic encephalopathy characterized by neonatal hypotonia, early-onset refractory seizures, optic atrophy, blindness, and profoundly impaired neurodevelopment that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA1A gene on chromosome 19p13. (2)
References
Ontology
Human Disease   ( DOID:0070842 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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