KCNQ2 脑病：电临床表型的描绘和治疗反应。
KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.
机构信息
From the University of California (A.L.N., J.E.S., M.R.C.), San Francisco; Central Hospital of Bolzano (M.A.), Italy; Kaiser Permanente of Northern California (A.J.L.); University of Genoa (P.S.), "G. Gaslini" Institute, Italy; and Paris-Descartes University, Hôpital Necker-Enfants Malades (R.N.), Paris, France.
出版信息
Neurology. 2014 Jan 28;82(4):368-70. doi: 10.1212/WNL.0000000000000060. Epub 2013 Dec 26.
Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.
新生儿发作性癫痫是一种罕见疾病，大多由遗传因素决定，可能表现为良性或严重的表型。(1,2) 最近认识到，新出现的 KCNQ2 突变与严重新生儿发作性癫痫伴难治性癫痫发作和严重精神运动障碍有关，称为 KCNQ2 脑病。(3,4) 这是一种罕见疾病，迄今为止报告的所有患者均在新生儿期后确诊。(3,4) 我们报告了 3 例新的 KCNQ2 脑病病例，这些病例在新生儿期被诊断，并通过连续视频脑电图记录进行研究。我们描述了一种独特的电临床表型，并报告了抗癫痫药物（AED）治疗的效果。
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