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Metadata
ID DOID:0110724
Name neuronal ceroid lipofuscinosis 8 northern epilepsy variant
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.
https://www.ncbi.nlm.nih.gov/pubmed/8014963, https://www.ncbi.nlm.nih.gov/pubmed/8743986
Xrefs

GARD:2163

GARD:4010

ICD10CM:E75.4

OMIM:610003

ORDO:1947

Synonyms

EPMR [EXACT]

northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant [EXACT]

progressive epilepsy with mental retardation, northern epilepsy [EXACT]

progressive epilepsy-intellectual disability syndrome, Finnish type [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

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