Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
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DOI：
10.1016/j.ejmg.2013.10.006
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发表时间：
2014-01-01
影响因子：
1.9
通讯作者：
Nabbout, Rima
中科院分区：
文献类型：
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作者：
Barcia, Giulia;Chemaly, Nicole;Nabbout, Rima
STXBP1（MUNC18.1）编码syntaxin binding protein 1，是一种引起癫痫性脑病的基因。STXBP1基因突变首先在具有抑制爆发的早发性癫痫性脑病中报道，然后在婴儿痉挛症中报道，最近在无癫痫的非综合征性精神发育迟滞患者中报道。（6名女性，1名男性）与STXBP1突变相关的早发性癫痫性脑病。我们记录了一个特殊的脑部MRI方面，其特征是额叶发育不全，一个薄而畸形的胼胝体癫痫的病程是相对良性的。这些临床和神经放射学特征可以指导临床医生选择患者进行STXBP1基因检测。(C)2013年Elsevier Masson SAS。All rights reserved.
STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, is a gene causing epileptic encephalopathy. Mutations in STXBP1 have first been reported in early onset epileptic encephalopathy with suppression-bursts, then in infantile spasms and, more recently, in patients with non syndromic mental retardation without epilepsy.We analyzed clinical evolution and brain magnetic resonance imaging in 7 patients (6 females, 1 male) with early onset epileptic encephalopathies associated with STXBP1 mutations.We documented a peculiar brain MRI aspect characterized by frontal hypoplasia and a thin and dysmorphic corpus callosum. The course of the epilepsy was relatively benign. These clinical and neuroradiological features could orient the clinician in selecting patients' candidate to genetic testing for STXBP1 gene. (C) 2013 Elsevier Masson SAS. All rights reserved.