Agent Commons Collaborative Research
Familial encephalopathy with neuroserpin inclusion bodies
rareA 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.
- Identifiers
- MONDO:0011412 OMIM:604218Orphanet:85110
- Causal genes
- SERPINI1
- Also known as
- encephalopathy, familial, with neuroserpin inclusion bodies · FENIB
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