Beck C, Moulard B, Steinlein O, Guipponi M, Vallee L, Montpied P, Baldy-Moulnier M, Malafosse A
Laboratoire de Médecine Expérimentale, INSERM U 249, CNRS UPR 9008, Institut de Biologie, Montpellier, France.
Neurobiol Dis. 1994 Nov;1(1-2):95-9. doi: 10.1006/nbdi.1994.0012.
Benign Familial Neonatal Convulsions (BFNC) is an epileptic disorder with an autosomal dominant mode of transmission. It has been shown that about 80% of BFNC pedigrees are linked to a genetic defect on chromosome 20q13.3. A candidate gene for the epilepsies, the gene coding for the alpha4 subunit of the nicotinic cholinergic receptor (CHRNA4), has previously been localized on chromosome 20. Here we report a single point mutation converting a serine codon to a stop codon in the exon 5 of CHRNA4, in one BFNC family. Identification of CHRNA4 as the defective gene in 20q-BFNC represents the first example of a human idiopathic epilepsy caused by a mutation directly affecting a neurotransmitter receptor in the central nervous system.
良性家族性新生儿惊厥（BFNC）是一种具有常染色体显性遗传模式的癫痫疾病。研究表明，约80%的BFNC家系与20号染色体q13.3上的基因缺陷有关。癫痫的一个候选基因，即编码烟碱型胆碱能受体α4亚基（CHRNA4）的基因，此前已定位在20号染色体上。在此，我们报告了一个BFNC家族中，CHRNA4外显子5发生了一个将丝氨酸密码子转换为终止密码子的单点突变。确定CHRNA4为20q - BFNC中的缺陷基因，代表了由直接影响中枢神经系统神经递质受体的突变引起的人类特发性癫痫的首个实例。
