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首页> 外文期刊>Clinical EEG and neuroscience: official journal of the EEG and Clinical Neuroscience Society (ENCS) >Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation
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Childhood-Onset Epileptic Encephalopathy Associated With Isolated Focal Cortical Dysplasia and a Novel TSC1 Germline Mutation

机译：儿童发作癫痫脑病与孤立的焦平皮质发育不良和新型TSC1种系突变相关

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摘要

Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 mu V and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years. Clinical signs alone were not sufficient to establish the diagnosis of TSC but epilepsy panel screening revealed a novel frameshift mutation (c.90delA; p.Glu31Argfs*12) within the TSC1 gene. Segregation gene analysis detected the same mutation in the mother. Cranial magnetic resonance imaging (MRI) studies from the index patient and his mother revealed a similar pattern of isolated subcortical white matter lesions resembling most likely focal cortical dysplasia (FCD) type IIb. In summary, in these 2 related patients, a novel TSC1 frameshift mutation was associated with an isolated FCD type IIb in the absence of further CNS abnormalities usually encountered in patients with TSC, fostering our understanding of the broad mutation spectra in the TSC1 gene and the close relationship between cortical tubers and FCD type IIb.
机译：肺结核硬化复合体（TSC）是一种由于TSC1和TSC2基因内的突变引起的常染色体显性性遗传神经皮肤病。许多患者患有西综合征，一种严重的癫痫综合征，其特征在于Triade婴儿痉挛，一种嵌入式脑电图（EEG）模式称为低血血症（连续缓慢的慢性活性，振幅高于300 mu V和多舰艇/多次尖峰/尖锐的波浪）和发育回归。在这项研究中，我们报告了一个以前的健康患者，癫痫患者患有9岁的新发病癫痫患者。仅临床迹象不足以建立TSC的诊断，但癫痫面板筛选揭示了TSC1基因内的新型帧突变突变（C.90Dela; P.Glu31ArgFS * 12）。分离基因分析检测到母亲的相同突变。来自指数患者及其母亲的颅磁共振成像（MRI）研究显示了类似于最可能局灶性发育不良（FCD）IIB的孤立的皮质片性白质病变的类似模式。总之，在这2例相关患者中，在TSC患者中通常遇到的进一步CNS异常的情况下，促进了我们对TSC1基因中的广泛突变光谱的进一步CNS异常，促进了一种新的TSC1帧突变突变与孤立的FCD型IIB相关。皮质块茎和FCD型IIB之间的密切关系。

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