A fragile X syndrome family with epilepsy

VernacularTitle:伴有癫痫的脆性X综合征家系1例
Author: Jian HUANG ^{1
,

2} ; Yuanxia WU ; Kuan FAN ; Rui LIU ; Pengju ZHANG ; Lu HAN ; Yuanyuan YANG ; Jiapeng LIU ; Shirong LI ; Xiao HU
Author Information

1. 遵义医科大学附属医院神经内科(遵义 563000)
2. 贵州省人民医院神经内科
Keywords: Fragile X syndrome; FMR1 gene; Fragile X mental retardation protein; Neurodevelopmental disor-der; Epilepsy; Genetic disease; Heterogeneity
From: Chinese Journal of Nervous and Mental Diseases 2024;50(1):30-32
CountryChina
Language:Chinese
Abstract: Fragile X syndrome(FXS)is caused by abnormal duplication and amplification of the FMR1 gene CGG.This article reports a pair of brothers diagnosed with FXS by genetic testing.Two patients,aged 15 and 14 years old respectively,both had clinical manifestations such as language disorders,intellectual disabilities,attention deficit disorder,autism spectrum disorder,and FXS's characteristic facial features.The proband had a rare late-onset epileptic seizure,which was well treated with levetiracetam,while his younger brother had no electroencephalogram abnormalities after repeated follow-up.This pair of cases suggests that the clinical phenotype of FXS has diversity and heterogeneity.