Hirsch E, Velez A, Sellal F, Maton B, Grinspan A, Malafosse A, Marescaux C
Service d'Epileptologie Clinique, Hôpitaux Universitaires de Strasbourg, France.
Ann Neurol. 1993 Dec;34(6):835-41. doi: 10.1002/ana.410340613.
Benign neonatal familial convulsions comprise a distinct epileptic syndrome with an autosomal mode of transmission. The electroclinical signs of seizures in this syndrome are not yet well defined. In 3 children from two families presenting with benign neonatal familial convulsions, 14 seizures were recorded during electroencephalographic (EEG)-video sessions. All seizures occurred during sleep, after a short arousal reaction. Seizures started with bilateral, symmetrical flattening of the EEG for 5 to 19 seconds; simultaneously there was apnea and tonic motor activity. The EEG flattening was followed by a long (1-2-minute) bilateral discharge of spikes and sharp waves; simultaneously, there were vocalizations, chewing, and focal or generalized clonic activity. The prominence of EEG and motor abnormalities varied between the left and the right from one seizure to the next in any given child. The seizures stopped without EEG or clinical postictal depression. These electroclinical observations suggest that the convulsions of benign neonatal familial convulsions are a form of generalized tonic-clonic seizure whose expression may be asymmetrical, probably because of the immaturity of the corpus callosum or other structures ensuring seizure synchronization.
良性新生儿家族性惊厥是一种具有常染色体遗传方式的独特癫痫综合征。该综合征中癫痫发作的电临床特征尚未明确界定。在来自两个家庭的3名患有良性新生儿家族性惊厥的儿童中，在脑电图（EEG）-视频监测期间记录到14次发作。所有发作均发生在睡眠中，在短暂的觉醒反应之后。发作开始时脑电图出现双侧对称平坦，持续5至19秒；同时出现呼吸暂停和强直性运动活动。脑电图平坦之后是长时间（1 - 2分钟）的双侧棘波和尖波放电；同时，出现发声、咀嚼以及局灶性或全身性阵挛活动。在任何给定儿童中，从一次发作到下一次发作，脑电图和运动异常在左右两侧的突出程度有所不同。发作停止时脑电图或临床均无发作后抑制。这些电临床观察结果表明，良性新生儿家族性惊厥的抽搐是全身性强直-阵挛发作的一种形式，其表现可能不对称，这可能是由于胼胝体或其他确保发作同步的结构不成熟所致。
