4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Author:

Hedrich Ulrike B. S.1ORCID,Lauxmann Stephan1ORCID,Wolff Markus23ORCID,Synofzik Matthis45ORCID,Bast Thomas67ORCID,Binelli Adrian8ORCID,Serratosa José M.910ORCID,Martínez-Ulloa Pedro9,Allen Nicholas M.11,King Mary D.1213,Gorman Kathleen M.1213ORCID,Zeev Bruria Ben1415ORCID,Tzadok Michal1415,Wong-Kisiel Lily16ORCID,Marjanovic Dragan17ORCID,Rubboli Guido1718ORCID,Sisodiya Sanjay M.1920,Lutz Florian1ORCID,Ashraf Harshad Pannikkaveettil1ORCID,Torge Kirsten1,Yan Pu1,Bosselmann Christian1ORCID,Schwarz Niklas1ORCID,Fudali Monika21ORCID,Lerche Holger1ORCID

Affiliation:

1. Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.

2. Department of Pediatric Neurology and Developmental Medicine, University Children’s Hospital, 72076 Tuebingen, Germany.

3. Department of Pediatric Neurology, Vivantes-Klinikum Neukölln, 12351 Berlin, Germany.

4. Department of Neurology and Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, 72076 Tuebingen, Germany.

5. German Center for Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.

6. Epilepsy Center Kork, 77694 Kehl-Kork, Germany.

7. Medical Faculty of the University of Freiburg, 79110 Freiburg, Germany.

8. Department of Pediatric Neurology, Elizalde Children’s Hospital, C1270 Buenos Aires, Argentina.

9. Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS- Fundacio’n Jime’nez Dı’az, UAM, 28040 Madrid, Spain.

10. Centro de Investigacio’n Biome’dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.

11. Department of Paediatrics, Clinical Sciences Institute, National University of Ireland Galway, Galway H91 TK33, Ireland.

12. Department of Neurology and Neurophysiology, Children’s Health Ireland at Temple Street, Dublin DO1 YC67, Ireland.

13. School of Medicine and Medical Science, University College Dublin, Dublin DO4 V1W8, Ireland.

14. Sackler School of Medicine Tel Aviv University, Tel Aviv 6997801, Israel.

15. Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Medical Center, 5265601 Ramat Gan, Israel.

16. Divisions of Child Neurology & Division of Epilepsy, Department of Neurology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.

17. Danish Epilepsy Center, Filadelfia, 4293 Dianalund, Denmark.

18. University of Copenhagen, 1165 Copenhagen, Denmark.

19. Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

20. Chalfont Centre for Epilepsy, Bucks SL9 0RJ, UK.

21. Department of Neurosurgery, University of Tuebingen, 72076 Tuebingen, Germany.

Abstract

4-Aminopyridine is a potential therapeutic option for a subgroup of patients with KCNA2 -encephalopathy and gain-of-function variants.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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