Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2
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DOI：
10.1016/s0920-1211(03)00037-8
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发表时间：
2003-04-01
影响因子：
2.2
通讯作者：
Steinlein, OK
中科院分区：
文献类型：
--
作者：
Dedek, K;Fusco, L;Steinlein, OK
电压门控K+通道基因KCNQ2的突变可导致良性家族性新生儿惊厥(BFNC)，其特征为良性病程、自发缓解和正常的精神运动发育。可以预测，大多数KCNQ2突变都会截断该蛋白质。只有少数氨基酸交换被发现，并且它们的定位局限于孔区或第四或第六跨膜区(TM)。我们现在已经确定了位于TM5内的第一个KCNQ2突变。影响预测蛋白质第247位氨基酸的高度保守的丝氨酸。这两个受影响家庭成员的临床病史与典型的BFNC不符。指标患者的不良结局提出了一个问题，即是否至少有一些KCNQ2突变可能会增加患上难治性癫痫的风险。还需要更多的研究来评估KCNQ2突变与严重的早期婴儿癫痫之间因果关系的可能性。(C)2003 Elsevier Science B.V.保留所有权利。
Mutations in the voltage gated K+-channel gene KCNQ2 are known to cause benign familial neonatal convulsions (BFNC), which are characterized by a benign course, spontaneous remission and normal psychomotor development. Most KCNQ2 Mutations can be predicted to truncate the protein. Only a few amino acid exchanges have been found, and their localization was restricted to either the pore region or the fourth or sixth transmembrane region (TM). We have now identified the first KCNQ2 mutation located within TM5. affecting a highly conserved serine in amino acid position 247 of the predicted protein. The clinical history of the two affected family members is not compatible with typical BFNC. The poor outcome in the index patient raises the question if at least some KCNQ2 mutations might increase the risk to develop therapy-resistant epilepsy. Additional Studies are needed to evaluate the possibility of a causal relationship between KCNQ2 mutations and severe early infantile epilepsy. (C) 2003 Elsevier Science B.V. All rights reserved.