Dalla Bernardina B, Capovilla G, Gattoni M B, Colamaria V, Bondavalli S, Bureau M
Rev Electroencephalogr Neurophysiol Clin. 1982 Apr;12(1):21-5. doi: 10.1016/s0370-4475(82)80004-x.
Twenty children (15 males and 5 females) suffering from a particular type of myoclonic epilepsy were submitted to a longitudinal study. All children were neurologically normal. Familial antecedents existed for epilepsy in 25% of the cases (5/20) and for febrile convulsions in 15% (3/20). The first fit appeared with fever at the mean age of 6 months in all cases but one of clonic type. Frequent similar febrile or afebrile clonic seizures recurred in all subjects before the age of 12 months. At this time the EEG was normal in 14 cases and brief discharges of generalized spike-waves during ILS or during sleep were present in 6 cases only. Later, frequent non-febrile clonic unilateral or generalized fits, frequent atypical 'absences' often accompanied by jerks, high photosensitivity and non-epileptic erratic myoclonias appear. Nevertheless, atomic and/or tonic seizures did not appear. The evolution is characterized by the persistence of fits and the appearance of severe language disorder and light cerebellar and pyramidal signs. The authors present their results and discuss the nosological problems of this severe infant myoclonic epilepsy.
20名患有特定类型肌阵挛性癫痫的儿童（15名男性和5名女性）接受了一项纵向研究。所有儿童神经系统均正常。25%的病例（5/20）有癫痫家族史，15%（3/20）有高热惊厥家族史。除1例阵挛型外，所有病例首次发作均在平均6个月龄时伴有发热。所有受试者在12个月龄前均反复出现频繁的类似热性或无热阵挛性发作。此时，14例脑电图正常，仅6例在闪光刺激或睡眠期间出现短暂的全身性棘波放电。后来，频繁出现非热性阵挛性单侧或全身性发作、频繁出现常伴有抽搐的非典型“失神”、高度光敏性和非癫痫性不规则肌阵挛。然而，未出现强直和/或阵挛性发作。其演变特征为发作持续存在，并出现严重的语言障碍以及轻度小脑和锥体束征。作者展示了他们的研究结果，并讨论了这种严重婴儿肌阵挛性癫痫的分类学问题。
