neuronal ceroid lipofuscinosis 8 northern epilepsy variant (DOID:0110724)
Alliance: disease page
Synonyms: EPMR; northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant; progressive epilepsy with mental retardation, northern epilepsy; progressive epilepsy-intellectual disability syndrome, Finnish type
Alt IDs: OMIM:610003, ICD10CM:E75.4, ORDO:1947
Definition: A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23.