期刊
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
卷 56, 期 -, 页码 50-52出版社
W B SAUNDERS CO LTD
DOI: 10.1016/j.seizure.2018.02.001
关键词
Fahr's disease; Primary familial brain calcification (PFBC); Epilepsy; Paediatric; SLC20A2; SCN2A
资金
- KL2 Mentored Career Development Award of the Stanford Clinical and Translational Science Award to Spectrum [NIH KL2 TR001083, UL1 TR001085]
- Research and Training Grant for Clinicians (American Epilepsy Society)
Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A. This case demonstrates that the ictal EEG is important for accurately classifying epilepsy in affected subjects with PFBC. Further, epilepsy in PFBC may be a polygenic disorder. (C) 2018 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
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