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Altered brain activity in juvenile myoclonic epilepsy with a monotherapy:a resting-state fMRI study

Acta Epileptologica 2022年第3期5卷 186-193页

作者： Linyuan Qin Yingying Zhang Jiechuan Ren Du Lei Xiuli Li Tianhua Yang Qiyong Gong Dong Zhou Department of Neurology West China HospitalSichuan UniversityChengdu 610041China Department of Neurology Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China Department of Radiology Huaxi MR Research CenterWest China HospitalSichuan UniversityChengdu 610041China

Background:juvenile myoclonic epilepsy(JME)is the most common syndrome of idiopathic generalized *** resting-state functional magnetic resonance imaging(rs-fMRI)studies have found thalamocortical circuit dysfunction in patients with JME,the pathophysiological mechanism of JME remains *** this study,we used three complementary parameters of rs-fMRI to investigate aberrant brain activity in JME patients in comparison to that of healthy ***:Rs-fMRI and clinical data were acquired from 49 patients with JME undergoing monotherapy and 44 ageand sex-matched healthy *** fMRI data preprocessing,the fractional amplitude of low-frequency fluctuation(fALFF),regional homogeneity(ReHo),and degree centrality(DC)were calculated and compared between the two *** analysis was conducted to explore the relationship between local brain abnormalities and clinical features in JME ***:Compared with the controls,the JME patients exhibited significantly decreased fALFF,ReHo and DC in the cerebellum,inferior parietal lobe,and visual cortex(including the fusiform and the lingual and middle occipital gyri),and increased DC in the right orbitofrontal *** the JME patients,there were no regions with reduced ReHo compared to the *** significant correlation was observed between regional abnormalities of fALFF,ReHo or DC,and clinical ***:We demonstrated a wide range of abnormal functional activity in the brains of patients with JME,including the prefrontal cortex,visual cortex,default mode network,and *** results suggest dysfunctions of the cerebello-cerebral circuits,which provide a clue on the potential pathogenesis of JME.

关键词： juvenile myoclonic epilepsy Resting-state functional magnetic resonance imaging Fractional amplitude of low-frequency fluctuation Regional homogeneity Degree centrality

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Case Report of Management Problem of juvenile myoclonic epilepsy

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Case Reports in Clinical Medicine 2016年第7期5卷 217-224页

作者： Ivan P. Artyukhov Olga S. Shilkina Natalia A. Shnayder Diana V. Dmitrenko Elena N. Bochanova Evgeniya A. Shapovalova Irina G. Strotskaya The Voyno-Yasenetsky Krasnoyarsk State Medical University of the Health Ministry of Russia The University Clinic Krasnoyarsk Russia

juvenile myoclonic epilepsy (JME) is one of the most common types of idiopathic generalised epilepsy. It starts in teenage years, yet it is frequently misdiagnosed or diagnosed very late, thereby resulting in inadequate therapy plan and worsening of symptoms. Timely diagnosis of JME is crucial for the correct management of symptoms and prevention of disease development. In this case report we describe a case of a 33-year-old woman who did not receive appropriate care due to a late diagnosis of her JME condition.

关键词： Idiopathic Generalised epilepsy juvenile myoclonic epilepsy Clinic Management Delayed Diagnosis Prognosis

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Frequency of juvenile myoclonic epilepsy Clinical Phenotypes in Siberia

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World Journal of Neuroscience 2016年第1期6卷 32-36页

作者： Olga S. Shilkina Kirill A. Petrov Anna V. Diuzhakova Natalia A. Marueva Natalia A. Shnayder The Voyno-Yasenetsky Krasnoyarsk State Medical University of the Health Ministry of Russia Krasnoyarsk Russia The Chita State Medical Academy of the Health Ministry of Russia Chita Russia

juvenile myoclonic epilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients living in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to females—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female patients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.

关键词： Idiopathic Generalised epilepsy juvenile myoclonic epilepsy JME Janz Syndrome Clinic Phenotype Phenotyping Diagnosis Prognosis

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