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Comment
. 2019 Dec 31:33:6.
doi: 10.15844/pedneurbriefs-33-6.

STXBP1-Related Developmental and Epileptic Encephalopathy

Brittani Wild  1 , Stephen Nelson  1
Affiliations
Comment

STXBP1-Related Developmental and Epileptic Encephalopathy

Brittani Wild et al. Pediatr Neurol Briefs. .

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.

Keywords: Early-Onset Epileptic Encephalopathy; Epilepsy; Intellectual disability; STXBP1.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Comment on

  • STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
    Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Review.

References

    1. Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, et al. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016 Mar;86(10):954–62. doi: 10.1212/WNL.0000000000002457. - DOI - PubMed
    1. 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. doi: 10.1016/j.ejpn.2016.04.005. - DOI - PubMed
    1. Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, et al. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurol Genet. 2017 Dec;3(6):e199. doi: 10.1212/NXG.0000000000000199. - DOI - PMC - PubMed
    1. Weckhuysen S, Holmgren P, Hendrickx R, Jansen AC, Hasaerts D, Dielman C, et al. 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. doi: 10.1111/epi.12124. - DOI - PubMed

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