A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
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DOI：
10.1055/s-2000-15290
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发表时间：
2000-02-01
期刊：
影响因子：
1.4
通讯作者：
Steinlein, OK
中科院分区：
文献类型：
--
作者：
Lee, WL;Biervert, C;Steinlein, OK
良性家族性新生儿惊厥是一种罕见的常染色体显性遗传的特发性癫痫。两个电压门控钾通道，染色体20q13.3上的KCNQ 2和8 q24上的KCNQ 3，最近被确定为负责BFNC的基因。在这里，我们描述了一个大的家庭与BFNC中，我们发现了一个以前未描述的突变KCNQ 2基因。1187（+2）T/G核苷酸交换影响内含子9中保守的供体剪接位点基序。可以预测该突变引起初级转录物的异常剪接。该家系临床表现多样。一个不寻常的临床特征是在晚年发生部分性癫痫发作，并伴有相应的局灶性神经功能缺损。
Benign familial neonatal convulsions (BFNC) are one of the rare idiopathic epilepsies with autosomal dominant mode of inheritance. Two voltage-gated potassium channels, KCNQ2 on chromosome 20q13.3 and KCNQ3 on 8q24, have been recently identified as the genes responsible for BFNC. Here we describe a large family with BFNC in which we found a previously undescribed mutation in the KCNQ2 gene. A 1187(+2)T/G nucleotide exchange affects the conserved donor splice site motif in intron 9. This mutation can be predicted to give rise to aberrant splicing of the primary transcript. There was a wide range of clinical manifestations in this family. An unusual clinical feature is the occurrence of partial seizures in later life with corresponding focal neurological deficits.