Human genes for familial encephalopathy with neuroserpin inclusion bodies
Familial encephalopathy with neuroserpin inclusion bodies [DOID:0050831]
A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.
Synonyms: familial encephalopathy with neuroserpin inclusion bodies, DOID:0050831, hereditary encephalopathy with neuroserpin inclusion bodies, familial encephalopathy with neuroserpin inclusion bodieses, FENIB ...