De novo gain‐of‐function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy-Reference-Cited by-同舟云学术

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

Published:2018-06 Issue:6 Volume:83 Page:1198-1204
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Ambrosino Paolo¹,Soldovieri Maria Virginia¹,Bast Thomas²³,Turnpenny Peter D.⁴,Uhrig Sabine⁵,Biskup Saskia⁶,Döcker Miriam⁶,Fleck Thilo⁷,Mosca Ilaria¹,Manocchio Laura¹,Iraci Nunzio⁸,Taglialatela Maurizio⁹,Lemke Johannes R.¹⁰^ORCID

Affiliation:

1. Department of Medicine and Health Sciences “Vincenzo Tiberio”University of MoliseCampobasso Italy

2. Epilepsy Center KorkKehl Germany

3. Faculty of Medicine of the University of FreiburgFreiburg Germany

4. Clinical Genetics, Royal Devon & Exeter NHS Foundation TrustExeter United Kingdom

5. Institute of Clinical Genetics, Klinikum StuttgartStuttgart Germany

6. CeGaT GmbH and Praxis für Humangenetik TübingenTübingen Germany

7. University Heart Center Freiburg–Bad Krozingen, Department of Congenital Heart Disease and Pediatric CardiologyMedical Center–University of FreiburgFreiburg Germany

8. Department of PharmacyUniversity of SalernoFisciano Salerno Italy

9. Department of NeuroscienceUniversity of Naples “Federico II”Naples Italy

10. Institute of Human GeneticsUniversity of Leipzig Hospitals and ClinicsLeipzig Germany

Funder

Wellcome Trust

Telethon Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25248