Møller Rikke S, Schneider Lizette M, Hansen Christian P, Bugge Merete, Ullmann Reinhard, Tommerup Niels, Tümer Zeynep
Danish Epilepsy Centre, Dianalund, Denmark.
Epilepsia. 2008 Jun;49(6):1091-4. doi: 10.1111/j.1528-1167.2008.01550.x. Epub 2008 Feb 20.
In a patient with severe myoclonic epilepsy of infancy (SMEI), we identified a de novo balanced translocation, t(2;5)(q24.3,q34). The breakpoint on chromosome 2q24.3 truncated the SCN1A gene and the 5q34 breakpoint was within a highly conserved genomic region. Point mutations or microdeletions of SCN1A have previously been identified in SMEI patients, but this is the first report of a balanced translocation disrupting the SCN1A gene in an epilepsy patient. We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal rearrangements.
在一名婴儿严重肌阵挛性癫痫（SMEI）患者中，我们鉴定出一种新生的平衡易位，即t(2;5)(q24.3,q34)。2号染色体q24.3处的断点截断了SCN1A基因，而5号染色体q34处的断点位于一个高度保守的基因组区域内。此前在SMEI患者中已鉴定出SCN1A的点突变或微缺失，但这是首次报道平衡易位破坏癫痫患者的SCN1A基因。因此，我们建议对没有SCN1A微缺失或点突变的SMEI患者进行染色体重排检查。
