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Progressive myoclonic epilepsy type 3

Disease definition

A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity.

ORPHA:263516

Classification level: Subtype of disorder
  • Synonym(s):
    • CLN14 disease
    • EPM3
    • PME type 3
    • Progressive myoclonic epilepsy due to KCTD7 deficiency
    • Progressive myoclonus epilepsy type 3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G40.3
  • OMIM: 611726
  • UMLS: C2673257
  • MeSH: -
  • GARD: 2167
  • MedDRA: -

Detailed information

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