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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-12-2018
Symbol EIEE62
Location 2q24.3
Name epileptic encephalopathy, early infantile, 62
Corresponding gene SCN3A
Main clinical features
  • refractory epilepsy beginning in the first weeks or months of life resulting in severe to profound intellectual disability and global neurologic impairment, microcephaly, hypotonia, spastic tetraparesis, and cortical blindness
  • multiple seizure types, including tonic, clonic, and myoclonic, and EEG showed multifocal sharp waves and spikes, intermittent slowing, and hypsarrhythmia
  • brain imaging showed polymicrogyria, thin corpus callosum
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease