Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy
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- 作者：Danique R.M. Vlaskampa ; b ; d.r.m.vlaskamp@umcg.nl" class="auth_mail" title="E-mail the corresponding author ; Patrick Rumpb ; Petra M.C. Callenbacha ; Yvonne J. Vosb ; Birgit Sikkema-Raddatzb ; Conny M.A. van Ravenswaaij-Artsb ; Oebele F. Brouwera
- 关键词：Myoclonic astatic epilepsy ; Doose syndrome ; STX1B ; Aetiology ; Genetics
- 刊名：European Journal of Paediatric Neurology
- 出版年：2016
- 出版时间：May 2016
- 年：2016
- 卷：20
- 期：3
- 页码：489-492
- 全文大小：471 K
文摘
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Third patient with myoclonic astatic epilepsy (MAE) and STX1B deletion or variant.
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STX1B interacts with STXBP1, which is associated with a spectrum of epilepsies.
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STX1B gene analysis should be considered in the diagnostic work-up of MAE individuals.