Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (

• ES
  European Science Foundation

  Award: DFG grant Le1030/11-2
• DF
  Deutsche Forschungsgemeinschaft

  Awards: HE 5415/6-1, HE5415/3-1, HE5415/5-1
• DG
  Deutsche Gesellschaft für Epileptologie