SEIZURE CHARACTERISTICS IN CHROMOSOME 20 BENIGN FAMILIAL NEONATAL CONVULSIONS
SEIZURE CHARACTERISTICS IN CHROMOSOME 20 BENIGN FAMILIAL NEONATAL CONVULSIONS
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DOI：
10.1212/wnl.43.7.1355
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发表时间：
1993-07-01
期刊：
影响因子：
9.9
通讯作者：
LEPPERT, M
中科院分区：
文献类型：
--
作者：
RONEN, GM;ROSALES, TO;LEPPERT, M
我们研究了69个受影响的人的亲属， 常染色体显性癫痫综合征的良性家族性新生儿惊厥，与染色体20。42%的患者在第3天发作，而68%的患者在前6周内缓解。癫痫发作时间短暂，表现为混合型癫痫发作，开始时有强直姿势、眼部症状、呼吸暂停和其他自主神经特征。癫痫发作往往进展为阵挛性运动和运动自动症。发作后状态短暂，发作间期新生儿看起来很好。发作时振幅普遍受到抑制的发作期EEG模式可能相对独特。神经认知结果通常正常，但随后癫痫的风险为16%。大多数晚期癫痫是全身强直性或强直阵挛性，有些癫痫是被激发的，这增加了一种不寻常的反射性癫痫的可能性。
We studied a kindred of 69 affected individuals with the autosomal dominant epileptic syndrome of benign familial neonatal convulsions, linked to chromosome 20. Forty-two percent had their seizure onset on day 3, while remission took place in 68% during the first 6 weeks. Seizures were brief and the phenotype was of a mixed seizure type, starting with tonic posture, ocular symptoms, apnea, and other autonomic features. The seizure often progressed to clonic movements and motor automatisms. The postictal state was brief, and interictally the neonates looked well. The ictal EEG pattern with generalized suppression of amplitude on onset may be relatively unique. Neurocognitive outcome was usually normal, but the risk for subsequent epilepsy was 16%. Most of the later epilepsy was generalized tonic or tonic-clonic, and some seizures were provoked, raising the possibility of an unusual form of reflex epilepsy.