Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18-01-2021
Symbol EIEE92
Location Xq26.3
Name epileptic encephalopathy, early infantile, 92
Corresponding gene FGF13
Main clinical features
  • in infancy intractable focal seizures and severe developmental delay
  • profound to severe mental retardation
  • brain MRI scans in infancy were normal
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s) . heterozygous missense variants in the N-terminal of the A isoform of FHF2 is a cause of EIEE92; variants lead to gain of function because they disrupt the ability of FHF2A to cause long-term inactivation of Nav channels while preserving pro-excitatory properties of FHF2A(PMID: 33245860))