伴有癫痫的早发性严重脑病：应将BRAT1基因列入病因清单。
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.
作者信息
van de Pol Laura A, Wolf Nicole I, van Weissenbruch Mirjam M, Stam Cornelie J, Weiss Janneke M, Waisfisz Quinten, Kevelam Sietske H, Bugiani Mariana, van de Kamp Jiddeke M, van der Knaap Marjo S
机构信息
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
Department of Neonatology, VU University Medical Center, Amsterdam, The Netherlands.
出版信息
Neuropediatrics. 2015 Dec;46(6):392-400. doi: 10.1055/s-0035-1564791. Epub 2015 Nov 4.
A variety of pathologies can underlie early-onset severe encephalopathy with epilepsy. To aid the diagnostic process in such patients we present an overview of causes, including the rapidly expanding list of genes involved. When no explanation is found, whole-exome sequencing (WES) can be used in an attempt to identify gene defects in patients suspected to suffer from a genetic form. We describe three siblings, born to consanguineous parents, with a lethal severe epileptic encephalopathy with early-infantile onset, including their magnetic resonance imaging, electroencephalography and, in one case, neuropathological findings. Using WES a homozygous frameshift mutation in the BRAT1 gene, c.638dup p.(Val214Glyfs*189), was identified. We present our cases in the context of all published cases with mutations in the BRAT1 gene and conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy.
多种病理情况可能是早发性重度脑病伴癫痫的潜在病因。为了辅助此类患者的诊断过程，我们概述了其病因，包括涉及的基因列表正在迅速增加的情况。当未找到病因时，全外显子测序（WES）可用于尝试识别疑似患有遗传形式疾病的患者的基因缺陷。我们描述了三例由近亲结婚的父母所生的患儿，他们患有致死性重度癫痫性脑病，起病于婴儿早期，包括他们的磁共振成像、脑电图检查结果，以及其中一例的神经病理学检查结果。通过全外显子测序，在BRAT1基因中鉴定出一个纯合移码突变，即c.638dup p.(Val214Glyfs*189)。我们将我们的病例放在所有已发表的BRAT1基因突变病例的背景下进行介绍，并得出结论，BRAT1应被添加到与早发性重度脑病伴癫痫相关的不断增加的基因列表中。
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