GTR Home > Conditions/Phenotypes > Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant

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

35 tests are in the database for this condition.

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Genes See tests for all associated and related genes

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

Clinical features

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