癫痫。伴有脑病的早发性癫痫的遗传学。
Epilepsy. Genetics of early-onset epilepsy with encephalopathy.
机构信息
Centre de Reference Epilepsies Rares, Department of Neuropediatrics, INSERM U663, Université Paris Descartes, Hôpital Necker, 149 Rue de Sèvres, Paris, France.
出版信息
Nat Rev Neurol. 2012 Jan 31;8(3):129-30. doi: 10.1038/nrneurol.2012.12.
PMID:22290576
Abstract
Genetically determined epilepsy with encephalopathy can develop early in life, often with prenatal onset, which makes diagnosis difficult. New molecular screening studies have identified causative mutations in patients with early-onset epilepsy with encephalopathy. What can we learn from the results of genetic screening in patients with this disorder?
摘要
遗传性癫痫伴脑病可在生命早期发病，常为产前起病，这使得诊断变得困难。新的分子筛查研究已经在早发性癫痫伴脑病患者中发现了致病突变。我们能从这种疾病患者的基因筛查结果中学到什么？
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