De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.

Authors

Ambrosino P1, Soldovieri MV1, Bast T2,3, Turnpenny PD4, Uhrig S5, Biskup S6, Döcker M6, Fleck T7, Mosca I1, Manocchio L1, Iraci N8, Taglialatela M9, Lemke JR10
  1. Department of Medicine and Health Sciences „Vincenzo Tiberio“, University of Molise, Campobasso, Italy.
  2. Epilepsy Center Kork, Kehl, Germany.
  3. Faculty of Medicine of the University of Freiburg, Freiburg, Germany.
  4. Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  5. Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany.
  6. CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
  7. University Heart Center Freiburg-Bad Krozingen, Department of Congenital Heart Disease and Pediatric Cardiology, Medical Center-University of Freiburg, Freiburg, Germany.
  8. Department of Pharmacy, University of Salerno, Fisciano, Salerno, Italy.
  9. Department of Neuroscience, University of Naples „Federico II“, Naples, Italy.
  10. Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.