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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.


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
  • ICD-11: 8A61.41
  • OMIM: 611726
  • UMLS: C2673257
  • MeSH: -
  • GARD: 2167
  • MedDRA: -

Detailed information


Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.