神经纤维瘤病 1 型癫痫：成人患病率、表型和基因型

IF 2 4区医学 Q3 CLINICAL NEUROLOGY Epilepsy Research Pub Date : 2024-03-02 DOI:10.1016/j.eplepsyres.2024.107336

Julien Hébert , Robert J. De Santis , Lubna Daniyal , Shabber Mannan , Eduardo Ng , Emily Thain , Maria Carolina Sanabria-Salas , Raymond H. Kim , Vera Bril , Aylin Y. Reid

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引用次数: 0

摘要

研究表明，1 型神经纤维瘤病 (NF1) 患者患癫痫的风险增加。然而，大多数报告都侧重于儿童群体。在本研究中，我们描述了 NF1 患者在儿童期之后的癫痫发病轨迹。我们对四年期间在神经纤维瘤病多学科诊所连续就诊的年龄≥18 岁的 NF1 患者进行了前瞻性登记，并为他们提供了常规脑电图、核磁共振成像和基因检测。计算了 NF1 患者的癫痫发病率。将人口统计学、遗传学、放射学和临床特征与癫痫诊断相关性纳入逻辑回归模型。在本研究纳入的 113 名 NF1 患者中（纳入研究时的中位年龄：33 岁），癫痫的终身患病率为 11% (CI=6-18%)，点患病率为 7% (CI=3-13%)。大多数患者（73%）在 18 岁前被诊断出患有癫痫，成年后已摆脱癫痫发作。在纳入研究时，四分之三确诊为癫痫的患者已无癫痫发作一年以上，三分之一的患者已治愈癫痫。在识别NF1和未缓解癫痫的成年患者方面，有痫样放电的常规脑电图的敏感性为25%（CI=3-65），特异性为99%（CI=93-100）。癫痫史与低级别胶质瘤（OR：38.2；CI=2.2-674.7；P<0.01）、学习障碍（OR：5.7；CI=1.0-31.5；P<0.05）和无丛状神经纤维瘤（OR：0.05；CI=0.0-0.8；P=0.04）相关。没有一种突变类型与癫痫的发生有关。在NF1患者中，虽然许多病例的癫痫随着时间的推移而缓解，但成人NF1患者的癫痫发病率高于普通人群。NF1的癫痫发生可能需要多种遗传因素和环境因素的共同作用，并表明有一个网络的参与，该网络超越了界限分明的实质病变的边界。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Epilepsy in neurofibromatosis type 1: Prevalence, phenotype, and genotype in adults

Purpose

Studies have shown an increased risk of epilepsy in patients with neurofibromatosis type 1 (NF1). However, most reports focus on the pediatric population. In this study, we describe the trajectory of patients with NF1 and epilepsy beyond childhood.

Methods

Patients with NF1 ≥18 years-old consecutively seen at a multidisciplinary neurofibromatosis clinic during a four-year period were prospectively enrolled and offered routine EEG, MRI, and genetic testing. The lifelong and point prevalence of epilepsy in patients with NF1 were calculated. Demographic, genetic, radiological, and clinical features found to be statistically associated with having received a diagnosis of epilepsy were incorporated into a logistic regression model.

Results

Among 113 patients with NF1 included in this study (median age at study inclusion: 33 years), the lifelong prevalence of epilepsy was 11% (CI_95%=6–18%) and point prevalence 7% (CI_95%= 3–13%). Most patients (73%) were diagnosed with epilepsy before the age of 18 and achieved seizure-freedom by adulthood. At study inclusion, three-quarters of patients with a diagnosis of epilepsy had been seizure-free for more than one year and a third had resolved epilepsy. A routine EEG with epileptiform discharges had a sensitivity of 25% (CI_95%=3–65) and specificity of 99% (CI_95%=93–100) for identifying adult patients with NF1 and unresolved epilepsy. A history of epilepsy was associated with having a low-grade glioma (OR: 38.2; CI_95%=2.2–674.7; p<0.01), learning disability (OR: 5.7; CI_95%=1.0–31.5; p<0.05), and no plexiform neurofibroma (OR: 0.05; CI_95%=0.0–0.8; p=0.04). No single mutation type was associated with the development of epilepsy.

Conclusions

In patients with NF1, although resolution of epilepsy over time was observed in many cases, the prevalence of epilepsy was higher among adults with NF1 than that reported in the general population. Epileptogenesis in NF1 likely requires the combination of multiple genetic and environmental factors and suggests involvement of a network that spreads beyond the borders of a well-defined parenchymal lesion.

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来源期刊

Epilepsy Research 医学-临床神经学

CiteScore

0.10

自引率

4.50%

发文量

143

审稿时长

62 days

期刊介绍： Epilepsy Research provides for publication of high quality articles in both basic and clinical epilepsy research, with a special emphasis on translational research that ultimately relates to epilepsy as a human condition. The journal is intended to provide a forum for reporting the best and most rigorous epilepsy research from all disciplines ranging from biophysics and molecular biology to epidemiological and psychosocial research. As such the journal will publish original papers relevant to epilepsy from any scientific discipline and also studies of a multidisciplinary nature. Clinical and experimental research papers adopting fresh conceptual approaches to the study of epilepsy and its treatment are encouraged. The overriding criteria for publication are novelty, significant clinical or experimental relevance, and interest to a multidisciplinary audience in the broad arena of epilepsy. Review articles focused on any topic of epilepsy research will also be considered, but only if they present an exceptionally clear synthesis of current knowledge and future directions of a research area, based on a critical assessment of the available data or on hypotheses that are likely to stimulate more critical thinking and further advances in an area of epilepsy research.