Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 12-10-2016
Symbol EIEE44
Location 3q22.1
Name epileptic encephalopathy, early infantile, 44
Corresponding gene UBA5
Main clinical features
  • early infantile-onset encephalopathy; in the first weeks or months of life irritability, jitteriness, back arching, and poor eye contact; additional features included severely delayed psychomotor development, truncal hypotonia, spasticity, dystonic or athetoid movements, postnatal microcephaly, and short stature; intellectual deficiency, microcephaly, movement disorders, and/or early-onset intractable epilepsy
  • brain imaging showed variable abnormalities, including thin corpus callosum, cortical atrophy, cerebellar atrophy, and white matter changes
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    Type disease
    Remark(s) . reduced UBA5 activity leading to impaired UFM1 system underlies this syndrome (PMID: 27545674))
  • UBA5 mutations is a pathophysiological cause for early-onset encephalopathies due to abnormal protein ufmylation (PMID:27545681))