Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Vic., Australia.
Florey Institute of Neuroscience and Mental Health, Heidelberg, Vic., Australia.
Epilepsia. 2018 Jun;59(6):1148-1153. doi: 10.1111/epi.14042. Epub 2018 May 9.
The genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal-dominant GLUT1 deficiency account for up to 1% of cases, increasing to 10% of those with absence seizures starting before age 4 years. Copy number variants are found in around 3% of cases, acting as risk alleles. Copy number variation is much more common in those with comorbid learning disability. Common variant associations are starting to emerge from genome-wide association studies but do not yet explain a large proportion of GGEs. Although currently genetic testing is not likely to yield a diagnosis for most patients with GGEs, it can be of great importance in specific clinical situations. Providers should consider the individual patient's history in determining the utility of genetic testing.
遗传性全面性癫痫(GGE)主要是遗传决定的疾病。虽然大多数情况下的遗传似乎是复杂的,涉及多个基因,但已知许多基因的变异也会导致这种疾病。导致常染色体显性 GLUT1 缺乏症的 SLC2A1 致病性变异约占 1%,在 4 岁前出现失神发作的患者中增加到 10%。拷贝数变异在约 3%的病例中被发现,作为风险等位基因。在合并学习障碍的患者中,拷贝数变异更为常见。从全基因组关联研究开始出现常见变异关联,但仍不能解释 GGE 的很大一部分。虽然目前基因检测不太可能为大多数 GGE 患者做出诊断,但在特定临床情况下,它可能具有重要意义。提供者应根据个体患者的病史来确定基因检测的效用。
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