Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 07-11-2013
Symbol EEOC
Location 15q26.1
Name epileptic encephalopathy, childhood onset
Corresponding gene CHD2
Main clinical features
  • myoclonic seizures, mental retardation with abnormal EEG, psychomotor regression, mimicking Dravet Syndrome
  • intellectual disability and fever-sensitive generalized seizures, as well as prominent myoclonic seizures starting in the second year of life or later
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    mental retardation
    Type disease
    Remark(s)
  • mutation leading to helicase dysfunction which might specifically result in neuronal hyperexcitability in the absence of syndromic or dysmorphic features (PMID: 24207121))