Vanmolkot K R J, Stroink H, Koenderink J B, Kors E E, van den Heuvel J J M W, van den Boogerd E H, Stam A H, Haan J, De Vries B B A, Terwindt G M, Frants R R, Ferrari M D, van den Maagdenberg A M J M
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Ann Neurol. 2006 Feb;59(2):310-4. doi: 10.1002/ana.20760.
Attacks of familial hemiplegic migraine (FHM) are usually associated with transient, completely reversible symptoms. Here, we studied the ATP1A2 FHM2 gene in a young girl with episodes of both very severe and transient neurological symptoms that were triggered by mild head trauma as well as permanent mental retardation. Her family members suffered from hemiplegic and confusional migraine attacks.
Mutation analysis of the ATP1A2 gene was performed by direct sequencing of all exons and flanking intronic regions, using genomic DNA of the proband. Functional consequences of the mutation were analyzed by cellular survival assays.
We identified a novel G615R ATP1A2 mutation in the proband and several of her family members. Functional analysis of mutant Na,K-ATPase in cellular survival assays showed a complete loss-of-function effect.
Permanent mental retardation in children may be caused by ATP1A2 mutations.
家族性偏瘫性偏头痛（FHM）发作通常与短暂的、完全可逆的症状相关。在此，我们研究了一个年轻女孩的ATP1A2 FHM2基因，该女孩有非常严重且短暂的神经症状发作，这些症状由轻度头部外伤引发，同时伴有永久性智力障碍。她的家庭成员患有偏瘫性和混乱性偏头痛发作。
使用先证者的基因组DNA，通过对所有外显子和侧翼内含子区域进行直接测序，对ATP1A2基因进行突变分析。通过细胞存活试验分析突变的功能后果。
我们在先证者及其几名家庭成员中鉴定出一种新的G615R ATP1A2突变。细胞存活试验中对突变型钠钾ATP酶的功能分析显示出完全的功能丧失效应。
儿童永久性智力障碍可能由ATP1A2突变引起。
