Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
Epilepsia. 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007. Epub 2012 Oct 25.
Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We previously reported that >10% (4 of 34) of a cohort with early onset absence epilepsy (EOAE) had GLUT1 deficiency. This study uses a new cohort of 55 patients with EOAE to confirm that finding. Patients with typical absence seizures beginning before 4 years of age were screened for solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) mutations or deletions. All had generalized spike-waves on electroencephalography (EEG). Those with tonic and/or atonic seizures were excluded. Mutations were found in 7 (13%) of 55 cases, including five missense mutations, an in-frame deletion leading to loss of a single amino acid, and a deletion spanning two exons. Over both studies, 11 (12%) of 89 probands with EOAE have GLUT1 deficiency. Given the major treatment and genetic counseling implications, this study confirms that SLC2A1 mutational analysis should be strongly considered in EOAE.
葡萄糖转运蛋白 1（GLUT1）缺乏症是由 SLC2A1 基因突变引起的，是一种越来越被认可的遗传性全面性癫痫的病因。我们之前报道称，早发性失神癫痫（EOAE）患者中有超过 10%（4/34）存在 GLUT1 缺乏症。本研究使用了一组新的 55 例 EOAE 患者来证实这一发现。对 4 岁前出现典型失神发作的患者进行溶质载体家族 2（葡萄糖转运蛋白促进剂）成员 1（SLC2A1）基因突变或缺失筛查。所有患者的脑电图（EEG）均显示出全面性棘慢波。排除有强直和/或阵挛性发作的患者。在 55 例病例中发现了 7 例（13%）突变，包括 5 种错义突变、导致单个氨基酸缺失的框内缺失以及跨越两个外显子的缺失。在这两项研究中，89 例 EOAE 先证者中有 11 例（12%）存在 GLUT1 缺乏症。鉴于其主要的治疗和遗传咨询意义，本研究证实 SLC2A1 突变分析应强烈考虑用于 EOAE。
