CAJ | 학술논문

儿童良性癫(癎)伴中央颞区棘波是儿童时期最常见的癫(癎)综合征,临床以局部性发作为主,常表现为面部抽搐、喉中痰鸣、流涎、言语不能和肢体抽动等,发作多出现在睡眠期,以非快动眼睡眠期最多.脑电图的特征性表现是中央颞区局灶性棘波放电.虽然该病的发病机制目前尚不清楚,但普遍认为遗传因素在该病的发生中起着非常重要的作用.该文将就近年来儿童良性癫(癎)伴中央颞区棘波在临床遗传学、细胞遗传和分子遗传学领域的研究进展综述如下.
인동량성전(간)반중앙섭구극파시인동시기최상견적전(간)종합정,림상이국부성발작위주,상표현위면부추휵、후중담명、류연、언어불능화지체추동등,발작다출현재수면기,이비쾌동안수면기최다.뇌전도적특정성표현시중앙섭구국조성극파방전.수연해병적발병궤제목전상불청초,단보편인위유전인소재해병적발생중기착비상중요적작용.해문장취근년래인동량성전(간)반중앙섭구극파재림상유전학、세포유전화분자유전학영역적연구진전종술여하.
Benign epilepsy with centro-temporal spikes (BECT)is the most common epilepsy syndrome in childhood.The seizures are manifested with facial jerking and twitching to guttural noises,salivating with inability to speak and twitched limbs.The episode is proved to be closely associated with sleep,especially the nonrapid eye movement period.Centrotemporal spikes are the hallmark of the syndrome of BECT.Although the pathogenesis of BECT is still unknown,it is generally acknowledged that hereditary features play a critical role in the occurrence of BECT.In this article we are going to summarize the progresses of BECT in the fields of clinical genetics,cytogenetics and molecular genetics.