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GENATLAS PHENOTYPE
last update : 27-11-2018
Symbol EIEE69
Location 1q25.3
Name epileptic encephalopathy, early infantile, 68
Corresponding gene CACNA1E
Main clinical features
  • spectrum of severe early-onset neurodevelopmental disorders characterized by severe to profound global developmental delay, significant hypotonia, and developmental and epileptic encephalopathy
  • pharmaco-resistant seizures beginning in the first year of life, profound developmental impairment, hyperkinetic movement disorders, and severe axial hypotonia
  • prominent axial hypotonia, often with appendicular hypertonia; spastic quadriplegia was frequent
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function characterized by facilitated voltage-dependent activation, slowed inactivation, and increased current density (PMID: 30343943)
    Remark(s)