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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

62 tests are in the database for this condition.

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Clinical tests (62 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

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Imported from Human Phenotype Ontology (HPO)

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