Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in <i>STXBP1</i>-Reference-Cited by-同舟云学术

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

Published:2023-08-29 Issue:9 Volume:101 Page:
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Thalwitzer Kim M.¹^ORCID,Driedger Jan H.¹,Xian Julie¹^ORCID,Saffari Afshin¹^ORCID,Zacher Pia¹^ORCID,Bölsterli Bigna K.¹^ORCID,Ruggiero Sarah McKeown¹,Sullivan Katie Rose¹^ORCID,Datta Alexandre N.¹^ORCID,Kellinghaus Christoph¹^ORCID,Althaus Jürgen¹,Wiemer-Kruel Adelheid¹^ORCID,van Baalen Andreas¹^ORCID,Pampel Armin¹,Alber Michael¹,Braakman Hilde M.H.¹^ORCID,Debus Otfried M.¹,Denecke Jonas¹,Hobbiebrunken Elke¹^ORCID,Breitweg Ina¹,Diehl Danielle¹,Eitel Hans¹,Gburek-Augustat Janina¹^ORCID,Preisel Martin¹,Schlump Jan-Ulrich¹,Laufs Mirjam¹,Mammadova Dilbar¹^ORCID,Wurst Carsten¹,Prager Christine¹^ORCID,Löhr-Nilles Christa¹,Martin Peter¹,Garbade Sven F.¹^ORCID,Platzer Konrad¹^ORCID,Benkel-Herrenbrueck Ira¹,Egler Kerstin¹,Fazeli Walid¹,Lemke Johannes R.¹^ORCID,Runkel Eva¹,Klein Barbara¹,Linden Tobias¹^ORCID,Schröter Julian¹,Steffeck Heike¹,Thies Bastian¹,von Deimling Florian¹,Illsinger Sabine¹,Borggraefe Ingo¹^ORCID,Classen Georg¹,Wieczorek Dagmar¹^ORCID,Ramantani Georgia¹^ORCID,Koelker Stefan¹^ORCID,Hoffmann Georg F.¹,Ries Markus¹^ORCID,Helbig Ingo¹^ORCID,Syrbe Steffen¹

Affiliation:

1. From the Division of Pediatric Epileptology (K.M.T., J.H.D., A.S., J.S., S.S.), Pediatric Neurology and Metabolic Medicine (A.S., S.F.G., J.S., S.K., G.F.H., M.R.), Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; The Epilepsy NeuroGenetics Initiative (ENGIN) (K.M.T., J.X., S.M.R., K.R.S., I.H.), Division of Neurology (J.X., S.M.R., K.R.S., I.H.), and Department of Biomedical and Health Informatics (DBHi) (J.X., I.H.), Children's Hospital of Philadelphia, PA;...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000207550

Reference37 articles.

1. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

2. De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

3. STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study

4. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

5. Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome

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