Livingston John H, Cross J Helen, Mclellan Ailsa, Birch Rachael, Zuberi Sameer M
Department of Paediatric Neurology, Clarendon Wing, Leeds General Infirmary, Leeds, United Kingdom.
J Child Neurol. 2009 Apr;24(4):503-8. doi: 10.1177/0883073808324537.
We report 2 families harboring a novel SCN1A mutation, one of whom had Panayiotopoulos syndrome and the other a phenotype consistent with generalized epilepsy with febrile seizures plus. Two siblings had recurrent episodes of autonomic status epilepticus with focal features consistent with the diagnosis of Panayiotopoulos syndrome. Both have the SCN1A mutation p.Phe218Leu. The mutation was present in their father who has never had a seizure. The same mutation was identified in a child diagnosed with intractable childhood epilepsy with generalized tonic clonic seizures. From the age of 5, he developed complex focal seizures associated with left hippocampal sclerosis. The mutation was present in his mother, aged 25, who had febrile seizures and developed generalized tonic clonic seizures and his sister who had 1 febrile seizure. Our findings suggest that SCN1A mutations may cause susceptibility to an idiopathic focal epilepsy phenotype, the final phenotype depending on other (genetic or nongenetic) factors.
我们报告了2个携带新型SCN1A突变的家系，其中一个患有帕纳约托普洛斯综合征，另一个的表型与伴有热性惊厥附加症的全身性癫痫一致。两名兄弟姐妹反复出现自主性癫痫持续状态，伴有与帕纳约托普洛斯综合征诊断相符的局灶性特征。两人均有SCN1A突变p.Phe218Leu。该突变存在于他们从未发作过癫痫的父亲身上。在一名被诊断为伴有全身性强直阵挛发作的难治性儿童癫痫的患儿中也发现了相同的突变。从5岁起，他出现了与左侧海马硬化相关的复杂局灶性发作。该突变存在于他25岁的母亲身上，她曾有过热性惊厥，后来发展为全身性强直阵挛发作，以及他的妹妹身上，妹妹曾有过1次热性惊厥。我们的研究结果表明，SCN1A突变可能导致对特发性局灶性癫痫表型的易感性，最终表型取决于其他（遗传或非遗传）因素。
