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Abstract：
Epileptic-dyskinetic encephalopathies are rare epilepsies characterized by early-onset epileptic encephalopathies (EOEEs) with involuntary movement. Herein, we investigated the impact of gene variants in epileptic-dyskinetic encephalopathies. Four independent patients from four families who exhibited involuntary movements were recruited from Tokyo Metropolitan Neurological Hospital. The inclusion criteria were as follows: onset within 1 year after birth, frequent seizures, severe developmental delay and accompanying involuntary movements. We detected four genetic mutations, including STXBP1, GNAO1, CYFIP2, and SCN8A variants. The involuntary movements were drug-resistant. However, pallidal electrocoagulation followed by gabapentin were partially effective in treating chorea and ballismus of the extremities in patients with GNAO1 variants, and perampanel partially suppressed seizures and involuntary movements in one patient with a SCN8A variant. Movement disorders are common to many neurodevelopmental disorders, including a variety of EOEEs. Although we could not establish a definitive correlation using genetic variants in patients with EOEE and movement disorders, involuntary movements in patients with EOEEs may be a key diagnostic finding. The usage of genetic variants could prove beneficial in the future as more patients are investigated with epileptic-dyskinetic encephalopathies.
摘要：
癫痫-运动障碍性脑病是罕见的癫痫，其特征是具有不自主运动的早发性癫痫性脑病（EOEEs）。在这里，我们研究了基因变异在癫痫-运动障碍性脑病中的影响.从东京都神经医院招募了来自四个家庭的四名独立患者，他们表现出非自主运动。纳入标准如下：出生后1年内发病，频繁的癫痫发作,严重的发育迟缓和伴随的不自主运动。我们检测到四种基因突变,包括STXBP1、GNAO1、CYFIP2和SCN8A变体。非自主运动具有抗药性。然而,在GNAO1变异型患者中，苍白虫电凝后加巴喷丁在治疗舞蹈病和四肢的波利斯病方面部分有效，和perampanel部分抑制了一名SCN8A变体患者的癫痫发作和不自主运动。运动障碍是许多神经发育障碍常见的疾病，包括各种EOEEs。尽管我们无法使用EOEE和运动障碍患者的遗传变异建立明确的相关性，EOEEs患者的非自主运动可能是一个关键的诊断结果。随着对更多患有癫痫-运动障碍性脑病的患者进行研究，遗传变异的使用在将来可能是有益的。
