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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
encephalopathy, recurrent, of childhood
MONDO:0007539
encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
MONDO:0009164
Bonnemann-Meinecke-Reich syndrome
MONDO:0009167
Lafora disease
MONDO:0009697
Unverricht-Lundborg syndrome
MONDO:0009698
action myoclonus-renal failure syndrome
MONDO:0009699