A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia-Reference-Cited by-同舟云学术

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Published:2016-09-09 Issue:4 Volume:80 Page:
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Helbig Katherine L.¹,Hedrich Ulrike B.S.²,Shinde Deepali N.¹,Krey Ilona³,Teichmann Anne‐Christin³,Hentschel Julia³,Schubert Julian²,Chamberlin Adam C.⁴,Huether Robert⁴,Lu Hsiao‐Mei⁴,Alcaraz Wendy A.¹,Tang Sha¹,Jungbluth Chelsy⁵,Dugan Sarah L.⁵⁶,Vainionpää Leena⁷,Karle Kathrin N.⁸⁹¹⁰,Synofzik Matthis⁸⁹,Schöls Ludger⁸⁹,Schüle Rebecca⁸⁹,Lehesjoki Anna‐Elina¹¹,Helbig Ingo¹²¹³,Lerche Holger²,Lemke Johannes R.³

Affiliation:

1. Division of Clinical GenomicsAmbry GeneticsAliso Viejo CA

2. Department of Neurology and Epileptology, Hertie Institute for Clinical Brain ResearchUniversity of TübingenTübingen Germany

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

4. Department of BioinformaticsAmbry GeneticsAliso Viejo CA

5. Department of Medical GeneticsChildren's Hospitals and Clinics of MinnesotaMinneapolis MN

6. Division of Medical GeneticsUniversity of UtahSalt Lake City UT

7. Department of Pediatrics and AdolescenceOulu University Hospital, PEDEGO Research Unit, University of OuluOulu Finland

8. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain ResearchUniversity of TübingenTübingen Germany

9. German Center for Neurodegenerative Diseases (DZNE)Tübingen Germany

10. Department of Psychiatry and PsychotherapyUniversity of TübingenTübingen Germany

11. Folkhälsan Institute of Genetics, Helsinki, Finland; Research Programs Unit, Molecular Neurology and Neuroscience CenterUniversity of HelsinkiHelsinki Finland

12. Division of NeurologyThe Children's Hospital of PhiladelphiaPhiladelphia PA

13. Department of Neuropediatrics, University Medical Center Schleswig‐HolsteinChristian‐Albrechts‐UniversityKiel Germany

Funder

Else Kröner-Fresenius-Stiftung

European Union for the NEUROMICS network

Folkhälsan Research Foundation and Academy of Finland

University of Kiel

German Research Foundation

EuroEPINOMICS framework of the European Science Foundation

DFG

German Ministry for Education and Research

German chapter of the International League against Epilepsy (DGfE)