U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Synonyms
EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION; Northern epilepsy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

69 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (69 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C8orf61, EPMR, TLCD6, CLN8
    Summary: CLN8 transmembrane ER and ERGIC protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.