PURPOSE: Kabuki syndrome (KS) is a rare dysmorphogenic disorder that is characterized by multiple congenital abnormalities with central nervous system involvement. The diagnosis is clinical and a variable degree of mental retardation is always present. Epilepsy is frequently reported, but a typical electroclinical pattern has not been described. We describe the electroclinical features of eight KS non-Japanese patients with epilepsy. METHODS: We analysed seizure characteristics and pattern EEG and clinical outcomes in eight KS patients. RESULTS: All patients presented with focal seizures. A frontal epileptic status was present in two cases. We highlighted the fact that, during evolution, seven patients shared the same interictal EEG pattern, which was characterized by isolated or repetitive biphasic spikes or sharp waves, followed by a slow wave of medium and high voltage, predominantly localised in the fronto-central regions. The natural course of seizures is favourable. CONCLUSIONS: Our results showed a peculiar homogeneous electroclinical pattern in KS, characterized by focal seizures more frequently origin in fronto-central area which demonstrated that seizures are mostly focal in type and that a fronto-central origin is more frequently evident.
PURPOSE:Kabuki syndrome (KS) is a rare dysmorphogenic disorder that is characterized by multiple congenital abnormalities with central nervous system involvement. The diagnosis is clinical and a variable degree of mental retardation is always present. Epilepsy is frequently reported, but a typical electroclinical pattern has not been described. We describe the electroclinical features of eight KS non-Japanese patients with epilepsy. METHODS: We analysed seizure characteristics and pattern EEG and clinical outcomes in eight KS patients. RESULTS: All patients presented with focal seizures. A frontal epileptic status was present in two cases. We highlighted the fact that, during evolution, seven patients shared the same interictal EEG pattern, which was characterized by isolated or repetitive biphasic spikes or sharp waves, followed by a slow wave of medium and high voltage, predominantly localised in the fronto-central regions. The natural course of seizures is favourable. CONCLUSIONS: Our results showed a peculiar homogeneous electroclinical pattern in KS, characterized by focal seizures more frequently origin in fronto-central area which demonstrated that seizures are mostly focal in type and that a fronto-central origin is more frequently evident.
Authors: Nancy Mizue Kokitsu-Nakata; Aline Lourenço Petrin; Jason Paul Heard; Siulan Vendramini-Pittoli; Laura E Henkle; Daniela Vera Cruz dos Santos; Jeffrey Clark Murray; Antonio Richieri-Costa Journal: Am J Med Genet A Date: 2012-06-27 Impact factor: 2.802