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GENATLAS PHENOTYPE
last update : 31-05-2017
Symbol EPM3
Location 7q11.21
Name myoclonic epilepsy 3
Other name(s) ceroid lipofuscinosis 14
Corresponding gene KCTD7
Other symbol(s) CLN14
Main clinical features
  • progressive myoclonic epilepsy, started between 16 and 24 months of age after normal initial development, with dementia, ataxia and myoclonic jerks
  • seizures were multifocal myoclonus aggravated by movements
  • EEG showed slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges, and photosensitivity. Brain magnetic resonance images were normal
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)