Purpose:

Our purpose was to describe the phenotypic features and test for association of genes GRIN2A, RBFOX1 and RBFOX3 with rolandic epilepsy in patients from Colombia.

Methods:

Thirty patients were enrolled. A structured interview was applied. In addition, saliva samples were collected from the patients and their parents. One polymorphism in each of GRIN2A, RBFOX1 and RBFOX3 genes was tested.

Results:

The average age at onset was 5.3 years. Almost half the sample presented prolonged seizures (>5 minutes); although the majority of the patients presented their seizures only while asleep, over a quarter presented them only while awake. The most frequent comorbidity was the presence of symptoms compatible with attention-deficit hyperactivity disorder (ADHD). Personal history of febrile seizures and parasomnias were equally frequent (20%). Family history of any type of epilepsy was reported in 80% of the patients, followed by migraine (73.3%) and poor academic performance (63.3%). About half the sample reported sleepwalking in parents or sibs. Most patients had received pharmacologic treatment. We found no association of rolandic epilepsy with the single nucleotide polymorphisms tested.

Conclusions:

Our rolandic epilepsy cohort presents clinical features clearly different from other cohorts. For instance, age at onset is much earlier in our set of patients, and personal and family history of febrile seizures as well as parasomnias are highly prevalent in our sample. No association of rolandic epilepsy with variants at the 3 genes tested was found. This lack of association may reflect the high genetic heterogeneity of the epilepsies.

中文翻译：

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哥伦比亚 Rolandic 癫痫患者的不同临床特征和可能与 GRIN2A、RBFOX1 或 RBFOX3 基因变异体相关的建议

目的：

我们的目的是描述表型特征并测试基因GRIN2A、RBFOX1和RBFOX3与哥伦比亚患者的rolandic癫痫症的关联。

方法：

招募了 30 名患者。采用结构化面试。此外，还收集了患者及其父母的唾液样本。测试了每个GRIN2A、RBFOX1和RBFOX3基因中的一个多态性。

结果：

平均发病年龄为 5.3 岁。几乎一半的样本表现出长时间的癫痫发作（> 5 分钟）；尽管大多数患者仅在睡眠时出现癫痫发作，但超过四分之一的患者仅在清醒时出现。最常见的合并症是存在与注意力缺陷多动障碍 (ADHD) 相符的症状。高热惊厥和异态睡眠的个人病史同样频繁（20%）。80% 的患者报告有任何类型癫痫的家族史，其次是偏头痛（73.3%）和学习成绩差（63.3%）。大约一半的样本报告父母或同胞有梦游。大多数患者接受了药物治疗。我们发现 rolandic 癫痫与所测试的单核苷酸多态性没有关联。

结论：

我们的 rolandic 癫痫队列呈现出明显不同于其他队列的临床特征。例如，在我们的一组患者中，发病年龄要早得多，并且在我们的样本中，高热惊厥和睡眠异常的个人和家族史非常普遍。没有发现 rolandic 癫痫与 3 个测试基因的变异有关。这种缺乏关联可能反映了癫痫的高度遗传异质性。