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本家族来自挪威北部 ,患“常染色体显性遗传夜间额叶性癫痫 ( ADNFLE)”,作者对其临床表现做了描述 ,并发现病变与神经原烟碱样乙酰胆碱受体α4 亚单位 ( CHRNA4)第二跨膜域的 Ser2 4 8Phe氨基酸置换有关。通过与首例被描述的一具有Ser2 4 8Phe突变的土著澳大利亚家族的单体型?
The family from northern Norway, suffering from “autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)”, the authors described the clinical manifestations and found that lesions and neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) Ser2 48 Phe amino acid substitutions in the second transmembrane domain. With the first case described by a mutant with Ser2 48Phe indigenous Australian haplotype?