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GTR Home > Conditions/Phenotypes > Progressive myoclonic epilepsy type 3

Progressive myoclonic epilepsy type 3

Synonyms
CEROID LIPOFUSCINOSIS, NEURONAL, 14; EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITHOUT INTRACELLULAR INCLUSIONS
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800). For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730). [from OMIM]

Available tests

55 tests are in the database for this condition.

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Clinical tests (55 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLN14, EPM3, KCTD7
    Summary: potassium channel tetramerization domain containing 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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