讨论PCDH19是与早期婴儿癫痫性脑病 (Early infatile epileptic encephalopathy,EIEE) 相关的第二个最常见基因,并导致 EIEE9 (OMIM #300088),这种疾病首先由Juberg 和 Hellman(1971)描述。最近,这种疾病已更名为 PCDH19-丛集性癫痫。根据最新国际抗癫痫联盟(2022)癫痫综合征定义为PCDH19簇集性癫痫(PCDH19 Clusterin...
Mutations in PCDH19 are responsible for DEE9 (OMIM #300088), a severe neurodevelopmental disorder characterized by early-onset clustering epilepsy, various degrees of cognitive impairment and neuropsychiatric comorbidities, like autism spectrum disorder (ASD) and behavioural problems. DEE9 patients start ...
Mutations in the X-linked genePCDH19(Xq22.1) cause a severe neurodevelopmental disorder known as Developmental and Epileptic Encephalopathy 9 (DEE9, OMIM # 300088) [1]. DEE9 is characterized by early-onset epilepsy and very heterogeneous spectrum of neuropsychiatric symptoms, including intellectual di...
PCDH19基因致病机制 PCDH19基因编码原钙黏蛋白19,参与细胞间的信号传导。1971年Juberg等[1]在一个大家系中发现仅限于女性的癫痫和智力障碍(epilepsy and mental retardation limited to females, EFMR)——15名女性(父源血亲),临床表现为癫痫伴智力低下,她...
Introduction Mutations in the human genePCDH19result in an epileptic syndrome known as EIEE9 (epileptic encephalopathy, early infantile, 9; OMIM#300088), characterized by early-onset seizures, cognitive impairment, and autistic features, in addition to a variety of behavioral problems and sleep dysre...
Clinical Genetic Characteristics of Epilepsy Due to Mutations in the PCDH19 Gene (OMIM: 300088)early epileptic encephalopathyPCDH19convulsionsdevelopmental delayObjectives: to analyze the clinical genetic characteristics of PCDH19-associated epilepsy in a cohort of patients from the population of the ...