Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy
Independent Occurrence of the CHRNA4 Ser248Phe Mutation in a Norwegian Family with Nocturnal Frontal Lobe Epilepsy
复制标题
CHRNA4 Ser248Phe 突变在挪威夜间额叶癫痫家族中的独立发生
DOI：
10.1111/j.1528-1157.2000.tb00205.x
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发表时间：
2000
期刊：
影响因子：
5.6
通讯作者：
E. Brodtkorb
中科院分区：
文献类型：
--
作者：
O. Steinlein;J. Stoodt;J. Mulley;S. Berkovic;I. Scheffer;E. Brodtkorb
摘要：目的：描述挪威北部一个常染色体显性夜间额叶癫痫（ADNFLE）家族的临床特征，该家族与神经元烟碱乙酰胆碱受体α4亚基（CHRNA4）第二跨膜结构域的Ser248Phe氨基酸交换有关。我们还通过将单倍型与最初描述了Ser248Phe突变的澳大利亚原始家族进行比较，检测了从头突变或创始人效应的证据。
Summary: Purpose: To describe the clinical features of a family from Northern Norway in which autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is associated with a Ser248Phe amino acid exchange in the second transmembrane domain of the neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4). We also tested for evidence of a de novo mutation or founder effect by comparing haplotypes with the original Australian family where the Ser248Phe mutation was first described.