Steinlein O K, Conrad C, Weidner B
Institute of Human Genetics, University Hospital, Ludwig-Maximillians-University, Goethestr. 29, D-80336 Munich, Germany.
Epilepsy Res. 2007 Mar;73(3):245-9. doi: 10.1016/j.eplepsyres.2006.10.010. Epub 2006 Nov 28.
Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant seizure disorder usually described to be characterized by a benign course, spontaneous remission and normal psychomotor development. The latter statement had come under consideration when a few case reports of families with less than favorable outcomes were published.
Since 1998 a total of 112 families suspected to have BFNC have been referred to our lab for genetic testing. Within this sample we identified private KCNQ2 mutations in 17 BFNC families. For 10 of those 17 families follow up information about the psychomotor development and the outcome were available.
In 4 (40%) of the 10 families at least 1 affected individual showed delayed psychomotor development or mental retardation. Three of the four mutations were familial, while the fourth mutation was de novo. Mutations associated with an unfavorable outcome tended to be located within the functionally critical S5/S6 regions of the KCNQ2 gene.
Our data raise the question if BFNC can indeed be described as a benign disorder, and which are the genetic and/or environmental factors that influence the outcome.
良性家族性新生儿惊厥（BFNC）是一种罕见的常染色体显性癫痫发作性疾病，通常被描述为具有良性病程、自发缓解以及正常精神运动发育的特点。当一些关于预后不佳的家庭的病例报告发表后，后一种说法受到了质疑。
自1998年以来，共有112个疑似患有BFNC的家庭被转诊至我们实验室进行基因检测。在这个样本中，我们在17个BFNC家庭中鉴定出了KCNQ2基因的私人突变。在这17个家庭中的10个家庭中，我们获得了有关精神运动发育和预后的随访信息。
在这10个家庭中的4个（40%）家庭中，至少有1名受影响个体表现出精神运动发育延迟或智力迟钝。这4个突变中有3个是家族性的，而第4个突变是新发的。与不良预后相关的突变倾向于位于KCNQ2基因功能关键的S5/S6区域内。
我们的数据提出了一个问题，即BFNC是否真的可以被描述为一种良性疾病，以及影响预后的遗传和/或环境因素有哪些。
