Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review

Conclusion: Epilepsy and intellectual disability/developmental delay occur in almost all patients with KCNT2 variants. KCNT2-relevant DEEs partially overlap with the clinical phenotypes of KATP channel diseases, particularly in hypertrichosis and distinctive coarse facial features.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research