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 arti...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.展开更多
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 inadequa...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.展开更多
Background:Juvenile myoclonic epilepsy(JME)is the most common syndrome of idiopathic generalized epilepsy.Although resting-state functional magnetic resonance imaging(rs-fMRI)studies have found thalamocortical circuit...Background:Juvenile myoclonic epilepsy(JME)is the most common syndrome of idiopathic generalized epilepsy.Although resting-state functional magnetic resonance imaging(rs-fMRI)studies have found thalamocortical circuit dysfunction in patients with JME,the pathophysiological mechanism of JME remains unclear.In this study,we used three complementary parameters of rs-fMRI to investigate aberrant brain activity in JME patients in comparison to that of healthy controls.Methods:Rs-fMRI and clinical data were acquired from 49 patients with JME undergoing monotherapy and 44 ageand sex-matched healthy controls.After 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 groups.Correlation analysis was conducted to explore the relationship between local brain abnormalities and clinical features in JME patients.Results: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 cortex.In the JME patients,there were no regions with reduced ReHo compared to the controls.No significant correlation was observed between regional abnormalities of fALFF,ReHo or DC,and clinical features.Conclusions: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 cerebellum.The results suggest dysfunctions of the cerebello-cerebral circuits,which provide a clue on the potential pathogenesis of JME.展开更多
文摘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.
文摘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.
基金This study was supported by the National Natural Science Foundation of China(82101521 and 81871017)the Brain Science Project of West China Hospital,Sichuan University(ZYJC21001).
文摘Background:Juvenile myoclonic epilepsy(JME)is the most common syndrome of idiopathic generalized epilepsy.Although resting-state functional magnetic resonance imaging(rs-fMRI)studies have found thalamocortical circuit dysfunction in patients with JME,the pathophysiological mechanism of JME remains unclear.In this study,we used three complementary parameters of rs-fMRI to investigate aberrant brain activity in JME patients in comparison to that of healthy controls.Methods:Rs-fMRI and clinical data were acquired from 49 patients with JME undergoing monotherapy and 44 ageand sex-matched healthy controls.After 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 groups.Correlation analysis was conducted to explore the relationship between local brain abnormalities and clinical features in JME patients.Results: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 cortex.In the JME patients,there were no regions with reduced ReHo compared to the controls.No significant correlation was observed between regional abnormalities of fALFF,ReHo or DC,and clinical features.Conclusions: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 cerebellum.The results suggest dysfunctions of the cerebello-cerebral circuits,which provide a clue on the potential pathogenesis of JME.
