Early-Onset Absence Epilepsy Caused by Mutations in the Glucose Transporter GLUT1
Early-Onset Absence Epilepsy Caused by Mutations in the Glucose Transporter GLUT1
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DOI：
10.1002/ana.21724
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发表时间：
2009-09-01
影响因子：
11.2
通讯作者：
Scheffer, Ingrid E.
中科院分区：
文献类型：
--
作者：
Suls, Arvid;Mullen, Saul A.;Scheffer, Ingrid E.
儿童失神性癫痫具有异质性，大多数病例具有复杂的遗传性。 4 岁之前发病的病例代表了一个研究不足的子集。我们对 34 名早发失神性癫痫患者进行了 SLC2A1（编码 GLUT1 葡萄糖转运蛋白的基因）突变的筛查。在 12% (4/34) 的患者中发现了导致蛋白质功能降低的突变。两种突变是从头出现的，其中两种是家族性的。这些发现表明 GLUT1 缺乏症是早发性失神性癫痫的很大一部分原因，这具有遗传咨询和治疗意义，因为生酮饮食对 GLUT1 缺乏症有效。
Absence epilepsies of childhood are heterogeneous with most cases following complex inheritance. Those cases with onset before 4 years of age represent a poorly studied subset. We screened 34 patients with early-onset absence epilepsy for mutations in SLC2A1, the gene encoding the GLUT1 glucose transporter. Mutations leading to reduced protein function were found in 12% (4/34) of patients. Two Mutations arose de novo, and two were familial. These Findings suggest GLUT1 deficiency underlies a significant proportion of early-onset absence epilepsy, which has both genetic counseling and treatment implications because the ketogenic diet is effective in GLUT1 deficiency.