Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

被引：50
|
作者：
Barcia, Giulia [1 ,2 ,3 ]
Chemaly, Nicole [1 ,2 ,3 ]
Gobin, Stephanie [4 ]
Milh, Mathieu [5 ]
Van Bogaert, Patrick [6 ]
Barnerias, Christine [1 ]
Kaminska, Anna [1 ,2 ,3 ]
Dulac, Olivier [1 ,2 ,3 ]
Desguerre, Isabelle [1 ]
Cormier, Valerie [4 ]
Boddaert, Nathalie [7 ,8 ]
Nabbout, Rima [1 ]
机构：
[1] Paris Descartes Univ, Hop Necker Enfants Malades, Ctr Reference Epilepsies Rares, Dept Neuropediat, Paris, France
[2] Univ Paris 05, PRES Sorbonne Paris Cite, INSERM, U663, F-75005 Paris, France
[3] CEA, Neurospin, F-91190 Gif Sur Yvette, France
[4] Paris Descartes Univ, Hop Necker Enfants Malad, Inserm U781, Dept Genet, Paris, France
[5] Timone Children Hosp, APHM, Pediat Neurol Dept, CINAPSE, Marseille, France
[6] Free Univ Brussels, Hop Erasme, Dept Pediat Neurol, B-1070 Brussels, Belgium
[7] Hop Necker Enfants Malad, APHP, Dept Pediat Radiol, F-75015 Paris, France
[8] Univ Paris 05, Paris, France
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2014年 / 57卷 / 01期
关键词：
STXBP1; MUNC18.1; Infantile spasms; Epileptic encephalopathies; ONSET WEST-SYNDROME; CEREBRAL HYPOMYELINATION; SPTAN1;
D O I：
10.1016/j.ejmg.2013.10.006
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：15 / 20
页数：6
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