De novo <i>KCNA6</i> variants with attenuated <scp> K <sub>V</sub> </scp> 1.6 channel deactivation in patients with epilepsy-Reference-Cited by-同舟云学术

De novo KCNA6 variants with attenuated K _V 1.6 channel deactivation in patients with epilepsy

Published:2022-12-05 Issue:2 Volume:64 Page:443-455
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Salpietro Vincenzo¹²,Galassi Deforie Valentina¹^ORCID,Efthymiou Stephanie¹^ORCID,O'Connor Emer¹,Marcé‐Grau Anna³,Maroofian Reza¹,Striano Pasquale⁴⁵^ORCID,Zara Federico⁴⁶,Morrow Michelle M.⁷^ORCID,Reich Adi⁷,Blevins Amy⁷,Sala‐Coromina Júlia³,Accogli Andrea⁴⁶^ORCID,Fortuna Sara⁸,Alesandrini Marie⁹,Au P. Y. Billie¹⁰^ORCID,Singhal Nilika Shah¹¹,Cogne Benjamin¹²¹³,Isidor Bertrand¹²¹³,Hanna Michael G.¹¹⁴,Macaya Alfons³,Kullmann Dimitri M.¹⁵^ORCID,Houlden Henry¹,Männikkö Roope¹^ORCID,

Affiliation:

1. Department of Neuromuscular Disease UCL Institute of Neurology, University College London London UK

2. Department of Biotechnological and Applied Clinical Sciences (DISCAB) University of L'Aquila L'Aquila Italy

3. Department of Paediatric Neurology, University Hospital Vall d'Hebron Universitat Autònoma de Barcelona Barcelona Spain

4. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI) University of Genoa 16124 Genoa Italy

5. Unit of Pediatric Neurology IRCCS, Istituto “Giannina Gaslini” Genoa 16123 Italy

6. Medical Genetics Unit IRCCS, Istituto “Giannina Gaslini” Genoa 16123 Italy

7. GeneDx Maryland Gaithersburg USA

8. Istituto Italiano di Tecnologia (IIT) Genoa Italy

9. Neuropediatrics Unit Centre Hospitalier Universitaire Nantes Nantes France

10. Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine University of Calgary Alberta Calgary Canada

11. Departments of Neurology and Pediatrics, UCSF Benioff Children's Hospital University of California California San Francisco USA

12. Centre Hospitalier Universitaire Nantes Service de Génétique Médicale Nantes France

13. Université de Nantes, CNRS, INSERM L'Institut du Thorax Nantes France

14. Queen Square Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery London UK

15. Department of Clinical and Experimental Epilepsy UCL Institute of Neurology, University College London London UK

Funder

Wellcome Trust

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17455

Reference43 articles.

1. Features of developmental coordination disorder in active childhood epilepsy: a population-based study

2. Uncovering the neurobehavioural comorbidities of epilepsy over the lifespan

3. How Can Advances in Epilepsy Genetics Lead to Better Treatments and Cures?

4. Genetics of Pediatric Epilepsy

5. Lessons learned from gene identification studies in Mendelian epilepsy disorders

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