STXBP1-Related Developmental and Epileptic Encephalopathy

Brittani Wild; Stephen Lewis Nelson

doi:10.15844/pedneurbriefs-33-6

STXBP1-Related Developmental and Epileptic Encephalopathy

Pediatric Neurology Briefs

Volume 33 (2019): Issue 0

By: Brittani Wild and Stephen Lewis Nelson

Open Access

|Dec 2019

Abstract

Researchers from the University of Antwerp, Belgium, and numerous international collaborators report a comprehensive overview of the phenotypic and genetic spectrum of Syntaxin-binding protein 1 (STXBP1) encephalopathy.

References

Stamberger H Nikanorova M Willemsen MH Accorsi P Angriman M Baier H STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy Neurology 2016 Mar 86 10 954 62 https://doi.org/10.1212/WNL.0000000000002457 26865513
Search in Google Scholar Back to article
Gburek-Augustat J Beck-Woedl S Tzschach A Bauer P Schoening M Riess A Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome Eur J Paediatr Neurol 2016 Jul 20 4 661 5 https://doi.org/10.1016/j.ejpn.2016.04.005 27184330
Search in Google Scholar Back to article
Uddin M Woodbury-Smith M Chan A Brunga L Lamoureux S Pellecchia G Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes Neurol Genet 2017 Dec 3 6 e199 https://doi.org/10.1212/NXG.0000000000000199 29264391
Search in Google Scholar Back to article
Weckhuysen S Holmgren P Hendrickx R Jansen AC Hasaerts D Dielman C Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers Epilepsia 2013 May 54 5 e74 80 https://doi.org/10.1111/epi.12124 23409955
Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-33-6 | Journal eISSN: 2166-6482

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Language: English

Page range: 6 - 6

Submitted on: Feb 11, 2019

Accepted on: Dec 30, 2019

Published on: Dec 31, 2019

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

STXBP1,

Epilepsy,

Intellectual disability,

Early-Onset Epileptic Encephalopathy

© 2019 Brittani Wild, Stephen Lewis Nelson, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 33 (2019): Issue 0