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neuronal ceroid lipofuscinosis 8; progressive epilepsy with mental retardation; Northern epilepsy variant of neuronal ceroid lipofuscinosis 8 (CLN8NE, EPMR)
Pathology: lipofuscinosis
Genetics:
1) autosomal recessive
2) associated with defects in CLN8 gene
Clinical manifestations:
1) childhood-onset
2) epilepsy so far described only in Finland
Laboratory:
- CLN8 gene mutation
Related
chromosomal aberration
lipofuscin
General
juvenile neuronal ceroid lipofuscinosis (JNCL)
Properties
ACCUMULATION: lipofuscin
ceroid
Database Correlations
OMIM correlations
References
OMIM :accession 600143, 610003