额叶癫痫相关基因的研究进展

The genes research progress in frontal lobe epilepsy

额叶癫痫是发病率仅次于颞叶癫痫的最常见的局灶性癫痫之一,其临床表现多样,发作期脑电图及头颅影像学检查有助于诊断,但误诊率仍高.随着近年来基因诊断及精准医学的发展,对额叶癫痫患者的基因检测越来越多,且常染色体显性遗传夜间额叶癫痫是额叶癫痫中与基因遗传联系最为紧密的一种疾病.至今,已发现6种基因突变与额叶癫痫相关,随着对突变基因的致病性研究进展,将对额叶癫痫的诊治有进一步的帮助.

Frontal lobe epilepsy,of which the morbidity is second to temporal lobe epilepsy,is one of the most common types of focal epilepsy.Its clinical manifestations are diversiform.Ictal electroencephalogram(EEG)and cranial imaging examinations are helpful in diagnosis making,but the misdiagnosis rate is still high.With the development of gene diagnosis and precision medicine in recent years,the use of genetic tests is increasing for frontal lobe epilepsy.Autosomal dominant nocturnal frontal lobe epilepsy(ADNFLE)as a common type of frontal lobe epilepsy is most closely associated with gene mutations.So far,6 kinds of genetic mutations have been found associating with frontal lobe epilepsy.Research progress in pathogenic mutafons will enhance the advancement of diagnosis and treatment of frontal lobe epilepsy.