Department of Medical Genetics, Oslo University Hospital, Ullevål, Oslo, Norway.
Epilepsy Behav. 2009 Nov;16(3):555-7. doi: 10.1016/j.yebeh.2009.08.021. Epub 2009 Sep 24.
Mutations in the SCN1A gene have been identified in a variety of epilepsy phenotypes, from severe encephalopathies such as Dravet syndrome to milder familial forms such as generalized epilepsy with febrile seizures plus. In a previous study, an SCN1A mutation was also identified in a patient with Lennox-Gastaut syndrome (LGS), and the aim of our study was to investigate the importance of mutations in the SCN1A gene in Norwegian patients with clinical features of LGS. We screened 22 adult patients for SCN1A mutations by direct sequencing of DNA and for micro-rearrangements with multiplex ligation-dependent probe amplification. In one patient a mutation was found, which demonstrates a clinical overlap between LGS and Dravet syndrome. This finding emphasizes the significance of SCN1A mutations also in epileptic disorders with features of LGS, particularly in the myoclonic variant of the disorder.
SCN1A 基因突变已在多种癫痫表型中被发现，从严重的脑病，如德拉维特综合征，到更温和的家族形式，如伴有发热性惊厥的全面性癫痫。在之前的一项研究中，Lennox-Gastaut 综合征（LGS）患者也发现了 SCN1A 基因突变，我们的研究目的是探讨 SCN1A 基因突变在具有 LGS 临床特征的挪威患者中的重要性。我们通过直接 DNA 测序和多重连接依赖性探针扩增的微重排对 22 名成年患者进行了 SCN1A 基因突变筛查。在一名患者中发现了一个突变，这表明 LGS 和德雷维特综合征之间存在临床重叠。这一发现强调了 SCN1A 基因突变在具有 LGS 特征的癫痫障碍中的重要性，特别是在该疾病的肌阵挛变异型中。
