neuronal ceroid lipofuscinosis 8; progressive epilepsy with mental retardation; Northern epilepsy variant of neuronal ceroid lipofuscinosis 8 (CLN8NE, EPMR)

Pathology

lipofuscinosis

Genetics

• autosomal recessive
• associated with defects in CLN8 gene

Clinical manifestations

• childhood-onset
• epilepsy so far described only in Finland

Laboratory

• CLN8 gene mutation

More general terms

• juvenile neuronal ceroid lipofuscinosis (JNCL)

Database

• OMIM: https://mirror.omim.org/entry/600143
• OMIM: https://mirror.omim.org/entry/610003