Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.
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DOI：
10.1016/j.ebr.2020.100417
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发表时间：
2021
影响因子：
--
通讯作者：
Fukuda M
中科院分区：
文献类型：
--
作者：
Arisaka A;Nakashima M;Kumada S;Inoue K;Nishida H;Mashimo H;Kashii H;Kato M;Maruyama K;Okumura A;Saitsu H;Matsumoto N;Fukuda M
癫痫性运动障碍性脑病是一种罕见的癫痫性疾病，其特征是EOEE伴不自主运动。由基因变异引起的EOEE患者的不自主运动可能是一个关键的诊断症状。基因诊断是有用的，并可为治疗方案的选择提供参考。癫痫-运动障碍性脑病是一种罕见的癫痫，其特征是早发性癫痫性脑病（EOEE）伴不自主运动。在此，我们研究了基因变异对癫痫运动障碍性脑病的影响。来自四个家庭的四个独立的病人谁表现出不自主运动从东京都立神经病医院招募。入选标准如下：出生后1年内发作，频繁癫痫发作，严重发育迟缓和伴随不自主运动。我们检测到四种基因突变，包括STXBP1，GNAO1，CYFIP2和SCN8A变体。不自主运动是抗药性的。然而，苍白球电凝后加巴喷丁在治疗GNAO 1变异体患者的舞蹈病和肢体冲击症方面部分有效，perampanel部分抑制了1例SCN 8A变异体患者的癫痫发作和不自主运动。运动障碍常见于许多神经发育障碍，包括各种EOEE。虽然我们不能使用EOEE患者的遗传变异和运动障碍建立明确的相关性，但EOEE患者的不自主运动可能是一个关键的诊断发现。随着越来越多的癫痫运动障碍性脑病患者接受调查，遗传变异的使用在未来可能会被证明是有益的。
Epileptic-dyskinetic encephalopathies are rare epileptic disorders characterized by EOEE with involuntary movement. The presence of involuntary movements in patients with EOEE caused by gene variants may be a key diagnostic symptom. Genetic diagnosis is useful and may provide a reference for treatment selection. 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.
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影响因子：
9.9
作者：
Guerrini, R.;Moro, F.;Dobyns, W. B.
通讯作者：
Dobyns, W. B.
影响因子：
2.3
作者：
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3.1
作者：
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通讯作者：
Basel-Salmon, Lina
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通讯作者：
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9.9
作者：
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通讯作者：
De Jonghe, P.