Mrabet H, Belhedi N, Bouchlaka S, El Gaaied A, Mrabet A
Neurological Department, Charles Nicolle Hospital, Tunis, Tunisia.
Neurol Sci. 2007 Dec;28(6):311-4. doi: 10.1007/s10072-007-0844-7. Epub 2008 Jan 4.
The objective was to investigate whether the described mutations of the SCN1A, SCN1B and GABRG2 genes are associated to generalised epilepsy with febrile seizure plus (GEFS+) in two Tunisian families. We performed a genetic study of two multigenerational Tunisian families with GEFS+ spectrum. The molecular analysis included a PCR amplification of SCN1B, SCN1A and GAGRG2 exons, then a screening of the known SCN1B, SCN1A and GABRG2 gene mutations by direct sequencing. The data excluded the involvement of all known published mutations. However, an insertion of a T nucleotide at a heterozygous state within the intron 12 of the SCN1A gene has been identified in two probands and their parents. Our results corroborate the genetic heterogeneity of GEFS+ predominantly in epilepsy patients of different countries and ethnic groups.
目的是调查在两个突尼斯家庭中，所描述的SCN1A、SCN1B和GABRG2基因的突变是否与伴有热性惊厥附加症的全身性癫痫（GEFS+）相关。我们对两个患有GEFS+谱系的突尼斯多代家庭进行了基因研究。分子分析包括对SCN1B、SCN1A和GAGRG2外显子进行PCR扩增，然后通过直接测序筛选已知的SCN1B、SCN1A和GABRG2基因突变。数据排除了所有已发表的已知突变的参与。然而，在两个先证者及其父母中，已鉴定出SCN1A基因内含子12内处于杂合状态的一个T核苷酸插入。我们的结果证实了GEFS+的遗传异质性，主要存在于不同国家和种族的癫痫患者中。
