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Comment
. 2018 Jul-Aug;18(4):257-259.
doi: 10.5698/1535-7597.18.4.257.

Trading up to a New Model of STXBP-Encephalopathy

Matthew Weston
Comment

Trading up to a New Model of STXBP-Encephalopathy

Matthew Weston. Epilepsy Curr. 2018 Jul-Aug.
No abstract available

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Comment on

References

    1. 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 M1, 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. STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy. Neurology. 2016;86:954–962. - PubMed
    1. Verhage M, Maia AS, Plomp JJ, Brussaard AB, Heeroma JH, Vermeer H, Toonen RF, Hammer RE, van den Berg TK, Missler M, Geuze HJ, Südhof TC. Synaptic assembly of the brain in the absence of neurotransmitter secretion. Science. 2000;287:864–869. - PubMed
    1. Harrison SD, Broadie K, van de Goor J, Rubin GM. Mutations in the Drosophila Rop gene suggest a function in general secretion and synaptic transmission. Neuron. 1994;13:555–566. - PubMed
    1. Deák F, Xu Y, Chang WP, Dulubova I, Khvotchev M, Liu X, Südhof TC, Rizo J. Munc18-1 binding to the neuronal SNARE complex controls synaptic vesicle priming. J Cell Biol. 2009;184:751–764. - PMC - PubMed
    1. Saitsu H, Kato M, Mizuguchi T, Hamada K, Osaka H, Tohyama J, Uruno K, Kumada S, Nishiyama K, Nishimura A, Okada I, Yoshimura Y, Hirai S, Kumada T, Hayasaka K, Fukuda A, Ogata K, Matsumoto N. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40:782–788. - PubMed

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