Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy-Reference-Cited by-同舟云学术

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

Published:2021-06-06 Issue:7 Volume:8 Page:1524-1527
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann. Clin. Transl. Neurol.

Author:

Herzog Rebecca¹²^ORCID,Hellenbroich Yorck³,Brüggemann Norbert²⁴⁵^ORCID,Lohmann Katja⁴^ORCID,Grimmel Mona⁶,Haack Tobias B.⁶⁷,Spiczak Sarah⁸,Münchau Alexander¹⁵^ORCID

Affiliation:

1. Institute of Systems Motor Science University Lübeck Lübeck Germany

2. Department of Neurology University of Lübeck Lübeck Germany

3. Institute of Human Genetics University of Lübeck Lübeck Germany

4. Institute of Neurogenetics University of Lübeck Lübeck Germany

5. Center of Brain, Behavior and Metabolism (CBBM) University of Lübeck Lübeck Germany

6. Institute of Human Genetics and Applied Genomics University of Tübingen Tübingen Germany

7. Centre for Rare Diseases University of Tübingen Tübingen Germany

8. DRK‐Northern German Epilepsy Center Schwentinental‐Raisdorf Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51403

Reference10 articles.

1. Human Semaphorin 6B [(HSA)SEMA6B], A Novel Human Class 6 Semaphorin Gene: Alternative Splicing and All-Trans-Retinoic Acid-Dependent Downregulation in Glioblastoma Cell Lines

2. De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

3. Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

4. Drug Treatment of Progressive Myoclonic Epilepsy

5. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

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