与STXBP1突变相关的早期癫痫性脑病：我们能否更好地描述其表型？
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
作者信息
Barcia Giulia, Chemaly Nicole, Gobin Stephanie, Milh Mathieu, Van Bogaert Patrick, Barnerias Christine, Kaminska Anna, Dulac Olivier, Desguerre Isabelle, Cormier Valerie, Boddaert Nathalie, Nabbout Rima
机构信息
Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France; Inserm U663, University Paris Descartes, PRES Sorbonne Paris Cité, Paris F-75005; CEA, Neurospin, 91190 Gif/Yvette, France.
Department of Genetics, Inserm U781, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France.
出版信息
Eur J Med Genet. 2014 Jan;57(1):15-20. doi: 10.1016/j.ejmg.2013.10.006. Epub 2013 Nov 1.
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.
STXBP1（MUNC18.1）基因编码 syntaxin 结合蛋白 1，是一种可导致癫痫性脑病的基因。STXBP1 基因突变最初在伴有抑制性爆发的早发性癫痫性脑病中被报道，随后在婴儿痉挛症中被发现，最近在无癫痫的非综合征性智力障碍患者中也有报道。我们分析了 7 例（6 名女性，1 名男性）与 STXBP1 基因突变相关的早发性癫痫性脑病患者的临床病程及脑部磁共振成像。我们记录到一种特殊的脑部 MRI 表现，其特征为额叶发育不全以及胼胝体薄且形态异常。癫痫病程相对良性。这些临床和神经放射学特征可为临床医生在选择进行 STXBP1 基因检测的候选患者时提供指导。
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