ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
11359211 Claes (2001): Identified mutations in SCN1A (including 4 frameshift mutations) in 7 unrelated patients with SMEI. All mutations were de novo and were not observed in 184 control chromosomes.
11940708 Sugawara (2002): Identified 10 mutations in SCN1A (including 3 frameshift mutations and 7 nonsense mutations) in 14 patients with SMEI.
18930999 Depienne (2009): Identified mutations or deletions in SCN1A in 242 of 333 patients with Dravet syndrome.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity