familial encephalopathy with neuroserpin inclusion bodies
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.
MONDO:0020074
progressive myoclonus epilepsy
is_a
MONDO:0100198
Mendelian encephalopathy
is_a
FENIB
exact
encephalopathy, familial, with neuroserpin inclusion bodies
related