Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability-Reference-Cited by-同舟云学术

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Published:2019-01-04 Issue:2 Volume:142 Page:376-390
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Liu Yuanyuan¹,Schubert Julian¹,Sonnenberg Lukas²,Helbig Katherine L³,Hoei-Hansen Christina E⁴,Koko Mahmoud¹,Rannap Maert¹,Lauxmann Stephan¹²,Huq Mahbubul⁵,Schneider Michael C⁶,Johannesen Katrine M⁷⁸,Kurlemann Gerhard⁹,Gardella Elena⁷⁸,Becker Felicitas¹,Weber Yvonne G¹,Benda Jan²,Møller Rikke S⁷⁸,Lerche Holger¹

Affiliation:

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

2. Institute for Neurobiology, University of Tuebingen, Tuebingen, Germany

3. Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

4. Department of Paediatrics, University Hospital Rigshospitalet, Copenhagen, Denmark

5. Department of Pediatrics, Wayne State University, Detroit, Michigan, USA

6. Carle Physicians Group, Section of Neurology, St. Christopher’s Hospital for Children, Urbana, Illinois, USA

7. The Danish Epilepsy Centre, Dianalund, Denmark

8. Institute of Regional Health Research, University of South Denmark, Odense, Denmark

9. University Hospital Muenster, Westfalian Wilhelms University, Muenster, Germany

Funder

DFG Research Unit

DFG

SMARTSTART Joint Program in Computational Neuroscience

Volkswagen Foundation

Medical Faculty of the University of Tuebingen

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/142/2/376/27635518/awy326.pdf

Reference43 articles.

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2. The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin;Barker;Epilepsia,2016

3. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy;Blanchard;J Med Genet,2015

4. The chemical basis for electrical signaling;Catterall;Nat Chem Biol,2017

5. Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects;Cestele;Proc Natl Acad Sci USA,2013

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