期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 -, 期 -, 页码 -出版社
WILEY
DOI: 10.1002/ajmg.a.63418
关键词
creatine; creatine transporter deficiency; EEG; epilepsy; seizure; SLC6A8
This study reported the seizure characteristics and EEG findings in males with creatine transporter deficiency (CTD). The findings showed that seizures were frequent in the study cohort, but tended to respond to antiseizure medications. Longitudinal follow-up provided further insight into the emergence of seizures and EEG abnormalities, soliciting future studies with long-term follow-up.
Seizures occur in up to 59% of boys with creatine transporter deficiency (CTD). While seizure phenotypes have been previously described, electroencephalogram (EEG) findings have only been reported in several case reports. In this prospective observational study, we report seizure characteristics and EEG findings in combination with neurobehavioral and SLC6A8 pathogenic variants in twenty males with CTD. Eighteen study participants (SP) underwent video-EEG, and seven had follow-up EEG recordings. Seizures typically occurred by age of 2 years. Thirteen (65%) had non-febrile seizures, requiring anti-seizure medications in nine. Four had febrile seizures. Seizures were bilateral tonic-clonic in 7 SP and focal impaired awareness in 5 SP; often responding to 1 to 2 antiseizure medications. EEG showed slowing in 5 SP, beta activity in 6 SP, and focal/multifocal, and/or generalized epileptiform activity in 9 SP. Follow-up EEGs in 7 SP showed emergence of epileptiform activity in 1 SP, and increased activity in 2 SP. In conclusion, seizures were frequent in our cohort but tended to respond to antiseizure medications. Longitudinal follow up provided further insight into emergence of seizures and EEG abnormalities soliciting future studies with long term follow up. Biomarkers of epileptogenicity in CTD are needed to predict seizures in this population.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据