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Neurogenetics
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

Authors

  • Edgard Verdura Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalunya, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Carme Fons Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Catalunya, Spain Sant Joan de Déu Research Institute (IRSJD), Esplugues de Llobregat, Barcelona, Catalunya, Spain PubMed articlesGoogle scholar articles
  • Agatha Schlüter Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalunya, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Montserrat Ruiz Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalunya, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Stéphane Fourcade Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalunya, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articlesGoogle scholar articles
  • Carlos Casasnovas Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalunya, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain Neuromuscular Unit, Neurology Department, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Catalunya, Spain PubMed articlesGoogle scholar articles
  • Antonio Castellano Institute of Biomedicine of Seville (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain Medical Physiology and Biophysics Departament, Universidad de Sevilla, Sevilla, Spain PubMed articlesGoogle scholar articles
  • Aurora Pujol Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalunya, Spain Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalunya, Spain PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Aurora Pujol, Neurometabolic Diseases Laboratory, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona 08908, Spain; apujol{at}idibell.cat
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Citation

Verdura E, Fons C, Schlüter A, et al
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Journal of Medical Genetics 2020;57:132-137.

Publication history

  • Received June 13, 2019
  • Revised September 12, 2019
  • Accepted September 15, 2019
  • First published October 5, 2019.
Online issue publication 
January 23, 2020

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.