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Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Neurogenetics ( IF 2.2 ) Pub Date : 2020-01-03 , DOI: 10.1007/s10048-019-00601-5
Chiara Ticci 1, 2 , Federico Sicca 2 , Anna Ardissone 3 , Enrico Bertini 4 , Valerio Carelli 5 , Daria Diodato 4 , Lidia Di Vito 5 , Massimiliano Filosto 6 , Chiara La Morgia 5 , Costanza Lamperti 7 , Diego Martinelli 4 , Isabella Moroni 3 , Olimpia Musumeci 8 , Daniele Orsucci 9 , Elia Pancheri 10 , Lorenzo Peverelli 7 , Guido Primiano 11 , Anna Rubegni 2 , Serenella Servidei 11 , Gabriele Siciliano 1 , Costanza Simoncini 1 , Paola Tonin 10 , Antonio Toscano 8 , Michelangelo Mancuso 1 , Filippo M Santorelli 2
Affiliation  

Many aspects of epilepsy in mitochondrial disorders (MDs) need to be further clarified. To this aim, we explored retrospectively a cohort of individuals with MDs querying the “Nationwide Italian Collaborative Network of Mitochondrial Diseases” (NICNMD) database (1467 patients included since 2010 to December 2016). We collected information on age at epilepsy onset, seizure type and frequency, genetic findings, and antiepileptic drugs (AEDs). At the time of our survey, 147/1467 (10%) patients in the NICNMD database had epilepsy. Complete information was available only for 98 patients, 52 males and 46 females, aged 5–92 years (mean age 40.4 ± 18.4; 14/98 children/teenagers and 84 adults). Epilepsy was the presenting feature of MD in 46/98 (47%) individuals, with onset at a median age of 19 years (range, 0.2–68; < 3 years in 14/97 (14%), 3–19 years in 36/97 (37%), > 19 years in 47/97 (49%)). Moreover, 91/98 patients (93%) displayed multiple seizures, with daily or weekly frequency in 25/91 (28%). Interictal EEG was abnormal in 70/78 (90%) patients, displaying abnormal background (47/70; 67%) and/or interictal paroxysms (53/70; 76%). Eighty of 90 patients (89%) displayed a 50–100% reduction of seizures on AEDs; levetiracetam was the most commonly used. Forty-one patients (42%) carried the m.3243A>G mutation, 16 (16%) the m.8344A>G, and 9 (9%) nuclear DNA (nDNA) mutations. Individuals with early-onset seizures mainly carried nDNA mutations and had a more severe epilepsy phenotype, higher seizure frequency, and disorganized background EEG activity. A better definition of epilepsy in MDs may foster the diagnostic workup, management, and treatment of affected patients, and allow more homogeneous patient stratification.

中文翻译:

线粒体癫痫:意大利全国性横断面调查。

线粒体疾病(MDs)中癫痫的许多方面需要进一步阐明。为此,我们回顾性研究了一群具有MD的个体,他们查询了“意大利线粒体疾病全国协作网络”(NICNMD)数据库(自2010年至2016年12月包括1467例患者)。我们收集了有关癫痫发作的年龄,癫痫发作的类型和频率,遗传学发现以及抗癫痫药(AED)的信息。在我们进行调查时,NICNMD数据库中的147/1467(10%)患者患有癫痫病。完整的信息仅适用于98例患者,其中52例男性和46例女性,年龄5-92岁(平均年龄40.4±18.4; 14/98儿童/少年和84位成人)。癫痫是46/98(47%)个体的MD表现,发病年龄中位数为19岁(范围0.2-68; 14/97岁<3岁,占14%),36/97(3%)中的3-19岁,47/97(49%)中的19岁以上)。此外,有91/98例患者(93%)表现出多发性癫痫发作,每天或每周出现25/91例(28%)。70/78(90%)患者的发作间脑电图异常,显示异常背景(47/70; 67%)和/或发作间发作(53/70; 76%)。90名患者中有80名(89%)表现出AED癫痫发作减少了50-100%;左乙拉西坦是最常用的。41名患者(42%)携带m.3243A> G突变,16(16%)人携带m.8344A> G和9(9%)个核DNA(nDNA)突变。早期发作的个体主要携带nDNA突变,并具有更严重的癫痫表型,更高的发作频率和背景性EEG活动混乱。在MD中更好地定义癫痫病可能会促进对患病患者的诊断检查,处理和治疗,
更新日期:2020-01-03
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