KCNC1 ‐related disorders: new de novo variants expand the phenotypic spectrum-Reference-Cited by-同舟云学术

KCNC1 ‐related disorders: new de novo variants expand the phenotypic spectrum

Published:2019-06-07 Issue:7 Volume:6 Page:1319-1326
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Park Joohyun¹²^ORCID,Koko Mahmoud²,Hedrich Ulrike B. S.²,Hermann Andreas³⁴,Cremer Kirsten⁵,Haberlandt Edda⁶,Grimmel Mona¹,Alhaddad Bader⁷⁸,Beck‐Woedl Stefanie¹,Harrer Merle²,Karall Daniela⁹,Kingelhoefer Lisa¹⁰,Tzschach Andreas¹¹,Matthies Lars C.⁵,Strom Tim M.⁷⁸,Ringelstein Erich Bernd¹²¹³,Sturm Marc¹,Engels Hartmut⁵,Wolff Markus¹⁴,Lerche Holger²,Haack Tobias B.¹⁷¹⁵

Affiliation:

1. Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany

2. Department of Neurology and Epileptology Hertie Institute for Clinical Brain Research, University of Tübingen Tübingen Germany

3. Translational Neurodegeneration Section “Albrecht‐Kossel”, Department of Neurology and Center for Transdisciplinary Neurosciences Rostock (CTNR) University Medical Center Rostock, University of Rostock 18147 Rostock Germany

4. German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald 18147 Rostock Germany

5. Institute of Human Genetics University of Bonn, School of Medicine and University Hospital Bonn Bonn Germany

6. Clinic for Pediatrics Krankenhaus Stadt Dornbirn Dornbirn Austria

7. Institute of Human Genetics Technische Universität München Munich Germany

8. Institute of Human Genetics Helmholtz Zentrum München Neuherberg Germany

9. Clinic for Pediatrics, Division of Inherited Metabolic Disorders Medical University of Innsbruck Innsbruck Austria

10. Department of Neurology Technische Universität Dresden and German Center for Neurodegenerative Diseases, Research Side Dresden Dresden Germany

11. Institute of Clinical Genetics Technische Universität Dresden Dresden Germany

12. Department of Neurology University Hospital of Muenster Muenster Germany

13. German Neuroscience Center Dubai United Arab Emirates

14. Department of Neuropediatrics University of Tübingen Tübingen Germany

15. Centre for Rare Diseases University of Tübingen Tübingen Germany

Funder

Deutsche Forschungsgemeinschaft

Bundesministerium für Bildung und Forschung

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50799

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