Within the 2q21.2 to 2q31.1 candidate region for pedigree 1, various disease entities have been recognized, such as Dravet syndrome caused by de novo mutations in SCN1A (182389) in 2q24 (Krepischi et al. The gene discussed is SCN1A; the disease is encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.