Term Name:	neuronal ceroid lipofuscinosis 8 northern epilepsy variant
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
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.
Ontology:	Human Disease [DOID:0110724]   ( DOID:0110724 )