neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Term ID

DOID:0110724

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. (2)

References

• GARD:2163
• GARD:4010
• ICD10CM:E75.4
• OMIM:610003
• ORDO:1947

Ontology

Human Disease   ( DOID:0110724 )