Protocadherin 19 (PCDH19)-related epilepsy (OMIM 300088) is a distinctive clinical syndrome limited to females. We describe a 17-year-old girl who presented to a regional epilepsy clinic with a history of recurrent febrile seizures in infancy. Genetic analysis of the PCDH19 gene revealed a ...
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...
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...
Epilepsy and Mental Retardation Limited to Females (EFMR) [OMIM 300088] was first described in 1971 [Juberg and Hellman, 1971] in 15 related females with early onset grand mal seizures and mental retardation. Although EFMR demonstrates X-linked inheritance, it follows an unusual pattern by ...
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 ...