EFHC1 mutation in Indian juvenile myoclonic epilepsy patient
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DOI: 10.1002/epi4.12037
Abstract: Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGEs) and is genetically heterogeneous. Mutations in EFHC1 cause JME. Because about 2 million people in India are affected by JME alone,… read more here.
Keywords: jme; myoclonic epilepsy; efhc1 mutation; juvenile myoclonic ... See more keywords
Source localization of epileptiform discharges in juvenile myoclonic epilepsy (JME) using magnetoencephalography (MEG)
Sign Up to like & getrecommendations! Published in 2017 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2016.11.019
Abstract: OBJECTIVE The purpose of this study is to localize the sources of epileptiform discharges (EDs), in juvenile myoclonic epilepsy (JME) using Magnetoencephalography (MEG), at three different time instances and analyze the propagation of EDs, from… read more here.
Keywords: epilepsy; source localization; source; jme ... See more keywords
Neurophysiology of Juvenile and Progressive Myoclonic Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Neurophysiology"
DOI: 10.1097/wnp.0000000000000913
Abstract: Summary: Myoclonus can be epileptic or nonepileptic. Epileptic myoclonus has been defined in clinical, neurophysiological, and neuroanatomical terms. Juvenile myoclonic epilepsy (JME) is typically considered to be an adolescent-onset idiopathic generalized epilepsy with a combination… read more here.
Keywords: jme; myoclonic epilepsy; progressive myoclonic; neurophysiology juvenile ... See more keywords
DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians
Sign Up to like & getrecommendations! Published in 2018 at "Epilepsia"
DOI: 10.1111/epi.14058
Abstract: Juvenile myoclonic epilepsy (JME) is a common adolescent‐onset genetic generalized epilepsy (GGE) syndrome. Multiple linkage and association studies have found that BRD2 influences the expression of JME. The BRD2‐JME connection is further corroborated by our… read more here.
Keywords: juvenile myoclonic; brd2; myoclonic epilepsy; promoter ... See more keywords
[Structural changes to the brain in drug-resistant juvenile myoclonic epilepsy].
Sign Up to like & getrecommendations! Published in 2022 at "Revista de neurologia"
DOI: 10.33588/rn.7502.2022066
Abstract: INTRODUCTION The aim of this research is to determine the changes in brain structures, both cortical and subcortical, in patients with drug-resistant juvenile myoclonic epilepsy (JME), in order to contribute to the understanding of the… read more here.
Keywords: jme; gyrus; changes brain; drug resistant ... See more keywords
Drug-Resistant Juvenile Myoclonic Epilepsy: Misdiagnosis of Progressive Myoclonus Epilepsy
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2019.00946
Abstract: Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication. Misdiagnosis of a more severe progressive myoclonus epilepsy (PME) as… read more here.
Keywords: epilepsy; juvenile myoclonic; drug; drug resistant ... See more keywords
Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy
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DOI: 10.3389/fnint.2020.00045
Abstract: Objective Transcranial magnetic stimulation (TMS), a non-invasive procedure, stimulates the cortex evaluating the central motor pathways. The response is called motor evoked potential (MEP). Polyphasia results when the response crosses the baseline more than twice… read more here.
Keywords: epilepsy; juvenile myoclonic; analysis; polyphasia ... See more keywords
Altered Cerebro-Cerebellar Effective Connectivity in New-Onset Juvenile Myoclonic Epilepsy
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DOI: 10.3390/brainsci12121658
Abstract: (1) Objective: Resting-state fMRI studies have indicated that juvenile myoclonic epilepsy (JME) could cause widespread functional connectivity disruptions between the cerebrum and cerebellum. However, the directed influences or effective connectivities (ECs) between these brain regions… read more here.
Keywords: connectivity; jme; myoclonic epilepsy; new onset ... See more keywords