Preferred Label : Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant;
CISMeF acronym : EPMR;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : EPMR; Epilepsy, progressive, with mental retardation; Northern epilepsy;
Description : The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous
group of neurodegenerative disorders characterized by the intracellular accumulation
of autofluorescent lipopigment storage material in different patterns ultrastructurally.
The lipopigment patterns observed most often in CLN8 comprise mixed combinations of
'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005). For a general
phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1
(256730).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the CLN8 transmembrane ER and ERGIC protein gene (CLN8, 607837.0001);
Laboratory abnormalities : Intracellular curvilinear profiles on ultrastructural analysis; Intracellular granular material on ultrastructural analysis;
Prefixed ID : #610003;
Origin ID : 610003;
UMLS CUI : C1864923;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)