婴儿惊厥伴游走性局灶性发作综合征：可能的遗传起源，但不在 SCN1A 基因。
Panayiotopoulos syndrome: probable genetic origin, but not in SCN1A.
机构信息
Paediatric Neurology Unit, Paediatric Service, Infanta Elena Hospital, Av Reyes Católicos 21, CP 28340 Valdemoro, Madrid, Spain.
出版信息
Eur J Paediatr Neurol. 2011 Mar;15(2):155-7. doi: 10.1016/j.ejpn.2010.08.002. Epub 2010 Sep 1.
Panayiotopoulos syndrome is encompassed in the classification of the ILAE in idiopathic focal epilepsies. Mutations in the SCN1A gene have been associated with the development of this syndrome. We present two cases of Panayiotopoulos syndrome in two monozygotic twins, who underwent a molecular analysis of SCN1A, but no alteration was found. These cases suggest a genetic origin, and SCN1A appears to be associated with the outcome but not with the development of this syndrome.
婴儿游走性部分性癫痫发作综合征属于 ILAE 特发性局灶性癫痫的分类。SCN1A 基因突变与该综合征的发生有关。我们报告了两例同卵双胞胎婴儿游走性部分性癫痫发作综合征，对 SCN1A 进行了分子分析，但未发现异常。这些病例提示其具有遗传基础，SCN1A 似乎与该综合征的结局有关，但与发病无关。
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