早发性癫痫性脑病的基因：从基因型到表型。

Genes of early-onset epileptic encephalopathies: from genotype to phenotype.

机构信息

Division of Child Neurology, Department of Pediatrics, Child Neurology, and Psychiatry, Sapienza University of Rome, Rome, Italy.

出版信息

Pediatr Neurol. 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003.

DOI:10.1016/j.pediatrneurol.2011.11.003

PMID:22196487

Abstract

Early-onset epileptic encephalopathies are severe disorders in which cognitive, sensory, and motor development is impaired by recurrent clinical seizures or prominent interictal epileptiform discharges during the neonatal or early infantile periods. They include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and other diseases, e.g., X-linked myoclonic seizures, spasticity and intellectual disability syndrome, idiopathic infantile epileptic-dyskinetic encephalopathy, epilepsy and mental retardation limited to females, and severe infantile multifocal epilepsy. We summarize recent updates on the genes and related clinical syndromes involved in the pathogenesis of early-onset epileptic encephalopathies: Aristaless-related homeobox (ARX), cyclin-dependent kinase-like 5 (CDKL5), syntaxin-binding protein 1 (STXBP1), solute carrier family 25 member 22 (SLC25A22), nonerythrocytic α-spectrin-1 (SPTAN1), phospholipase Cβ1 (PLCβ1), membrane-associated guanylate kinase inverted-2 (MAGI2), polynucleotide kinase 3'-phosphatase (PNKP), sodium channel neuronal type 1α subunit (SCN1A), protocadherin 19 (PCDH19), and pyridoxamine 5-prime-phosphate oxidase (PNPO).

摘要

早发性癫痫性脑病是一种严重的疾病，其认知、感觉和运动发育受到新生儿期或婴儿早期反复临床发作或明显的间发性癫痫样放电的损害。它们包括大田原综合征、早发性肌阵挛性癫痫性脑病、West 综合征、Dravet 综合征和其他疾病，例如 X 连锁肌阵挛性癫痫、痉挛性和智力障碍综合征、特发性婴儿癫痫性运动障碍性脑病、仅女性发病的癫痫和智力障碍、严重婴儿多灶性癫痫。我们总结了最近关于早发性癫痫性脑病发病机制中涉及的基因和相关临床综合征的更新：Aristaless 相关同源框 (ARX)、细胞周期蛋白依赖性激酶样 5 (CDKL5)、突触结合蛋白 1 (STXBP1)、溶质载体家族 25 成员 22 (SLC25A22)、非红细胞α- spectrin-1 (SPTAN1)、磷脂酶 Cβ1 (PLCβ1)、膜相关鸟苷酸激酶倒置-2 (MAGI2)、多核苷酸激酶 3'-磷酸酶 (PNKP)、钠通道神经元型 1α 亚基 (SCN1A)、原钙黏蛋白 19 (PCDH19) 和吡哆醇 5-磷酸氧化酶 (PNPO)。