Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci S A, Lo Giudice M, Fichera M
Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Via Conte Ruggero 73, 94018 Troina (EN), Italy.
Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88.
To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations.
Eight boys (age range 3-16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation screening by denaturing high-performance liquid chromatography analysis.
We found three unrelated boys carrying three different missense mutations of the CDKL5 gene: c.872G>A (p.C291Y), c.863C>T (p.T288I), and c.533G>C (p.R178P). They presented early-onset, polymorphous, and drug-resistant seizures, mostly myoclonic and tonic or spasms. EEG showed epileptiform abnormalities which were multifocal during wakefulness, and pseudoperiodic bisynchronous during sleep.
This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features.
在患有严重早发性脑病和难治性癫痫的男孩中寻找CDKL5基因突变，这一临床症状与已报道的携带CDKL5基因突变的女孩非常相似。
选取8名患有严重或极重度智力障碍和早发性难治性癫痫的男孩（年龄范围3 - 16岁，平均年龄8.5岁，标准差4.38），通过变性高效液相色谱分析进行CDKL5基因突变筛查。
我们发现3名不相关的男孩携带CDKL5基因的3种不同错义突变：c.872G>A（p.C291Y）、c.863C>T（p.T288I）和c.533G>C（p.R178P）。他们表现为早发性、多形性和耐药性癫痫发作，主要为肌阵挛、强直或痉挛发作。脑电图显示癫痫样异常，清醒时多灶性，睡眠时伪周期性双同步。
本研究描述了3名携带CDKL5错义突变的男孩及其详细的临床和脑电图数据，并表明CDKL5基因突变可能也是男孩严重或极重度智力障碍和早发性难治性癫痫发作的一个病因。强烈建议对具有这些临床特征的个体进行CDKL5基因突变筛查。
