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GENATLAS PHENOTYPE
last update : 27-08-2019
Symbol SMEI2
Location 2q24.3
Name severe myoclonic epilepsy in infancy 2
Other name(s)
  • Dravet syndrome
  • early infantile epileptic encephalopathy 6
    • Corresponding gene SCN1A
    Other symbol(s) SMEB, GEFS+, EIEE6
    Main clinical features
  • Dravet syndrome is a severe infantile onset epilepsy syndrome with multiple seizure types, developmental slowing and poor outcome and is considered to be the most severe phenotype within the spectrum of generalized (genetic) epilepsy with febrile seizures (GEFS+)
    • Genetic determination autosomal dominant
    Related entries . severe form of generalized epilepsy with febrile seizures, including forms of West syndrome . DEL2Q24, GEFSP2
    Function/system disorder neurology
    Type disease
    Gene product
    Name sodium channel, voltage-gated, type I, alpha
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein  
    deletion   haploinsufficiency  
      deletion   microdeletions with subband 2q24.3 as the smallest commonly deleted region (see DEL2Q24)
    Remark(s)
  • nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression (PMID: 23086956))
    • . SCN1A intronic and “poison exon” variants cause Dravet Syndrome phenotypes (PMID: 30526861))