1,271 results match your criteria Epilepsy Juvenile Myoclonic


The electroclinical features of idiopathic generalized epilepsy patients presenting with fixation-off sensitivity.

Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.

Epilepsy and Sleep Disorders Unit, Department of Neurology, The Fourth Military Medical University, Xi'an, 710032, China.

To determine the electroclinical features of fixation-off sensitivity (FOS) in patients with idiopathic generalized epilepsy (IGE). We searched the EEG database using the terms "fixation-off sensitivity" and "idiopathic generalized epilepsy" over a four-year period from March 2014 to April 2018 in the Xijing Hospital, Xi'an, China. FOS was evaluated according to the technique proposed by Panayiotopoulos. Read More

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http://dx.doi.org/10.1684/epd.2018.1021DOI Listing
December 2018

Psychosocial complications in juvenile myoclonic epilepsy.

Epilepsy Behav 2018 Dec 7;90:122-128. Epub 2018 Dec 7.

Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Juvenile myoclonic epilepsy (JME) constitutes about 10% of all epilepsies. Because of executive dysfunction, people with JME may be prone to impulsivity and risk-taking behavior. Our aim was to investigate whether psychosocial issues associated with impulsivity are more prominent in people with JME than in those with other types of genetic generalized epilepsy (GGE). Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.11.022DOI Listing
December 2018
2 Reads

Juvenile myoclonic epilepsy has hyper dynamic functional connectivity in the dorsolateral frontal cortex.

Neuroimage Clin 2018 Nov 19. Epub 2018 Nov 19.

Department of Clinical Science, Intervention, and Technology, Karolinska Institute, Stockholm, Sweden; Department of Medical Radiation Physics and Nuclear Medicine, Karolinska University Hospital, Sweden.

Purpose: Characterize the static and dynamic functional connectivity for subjects with juvenile myoclonic epilepsy (JME) using a quantitative data-driven analysis approach.

Methods: Whole-brain resting-state functional MRI data were acquired on a 3 T whole-body clinical MRI scanner from 18 subjects clinically diagnosed with JME and 25 healthy control subjects. 2-min sliding-window approach was incorporated in the quantitative data-driven data analysis framework to assess both the dynamic and static functional connectivity in the resting brains. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.11.014DOI Listing
November 2018

Remodeling the endoplasmic reticulum proteostasis network restores proteostasis of pathogenic GABAA receptors.

PLoS One 2018 27;13(11):e0207948. Epub 2018 Nov 27.

Department of Physiology and Biophysics, Case Western Reserve University School of Medicine, Cleveland, Ohio, United States of America.

Biogenesis of membrane proteins is controlled by the protein homeostasis (proteostasis) network. We have been focusing on protein quality control of γ-aminobutyric acid type A (GABAA) receptors, the major inhibitory neurotransmitter-gated ion channels in mammalian central nervous system. Proteostasis deficiency in GABAA receptors causes loss of their surface expression and thus function on the plasma membrane, leading to epilepsy and other neurological diseases. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207948PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258528PMC
November 2018

The cognitive phenotype of idiopathic generalized epilepsy.

Epilepsy Behav 2018 Dec 6;89:99-104. Epub 2018 Nov 6.

Unidad de Epilepsia, Hospital Clínico San Carlos, Calle Profesor Martín Lagos s/n, 28040 Madrid, Spain.

Objective: Dysexecutive traits have been described in idiopathic generalized epilepsy (IGE), but studies mainly focused on juvenile myoclonic epilepsy (JME). To better understand the neuropsychology of IGE, more research is needed on syndromes other than JME, controlling potential confounding factors as the cognitive effects of valproate and epileptic discharges (ED). We describe the neuropsychological profile of a group of patients with different syndromes of IGE including simultaneous video electroencephalography (EEG). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183061
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http://dx.doi.org/10.1016/j.yebeh.2018.10.007DOI Listing
December 2018
3 Reads

Antiepileptic drug withdrawal in juvenile myoclonic epilepsy.

Acta Neurol Scand 2018 Oct 31. Epub 2018 Oct 31.

Department of Neurology, Drammen Hospital, Vestre Viken Hospital Trust, Drammen, Norway.

Objectives: Withdrawal of antiepileptic drugs (AEDs) has been discouraged in juvenile myoclonic epilepsy (JME). However, impulsivity as a consequence of executive dysfunction in JME may influence treatment adherence. The aim of the present study was to assess how common withdrawal of AEDs is in a large and representative JME group. Read More

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http://doi.wiley.com/10.1111/ane.13042
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http://dx.doi.org/10.1111/ane.13042DOI Listing
October 2018
6 Reads

EF-hand domain containing 2 (Efhc2) is crucial for distal segmentation of pronephros in zebrafish.

Cell Biosci 2018 16;8:53. Epub 2018 Oct 16.

1Institute of Life Sciences, Nalco Square, Chandrasekharpur, Bhubaneswar, Odisha 751023 India.

Background: The blood filtering organ in zebrafish embryos is the pronephros, which consists of two functional nephrons. Segmentation of a nephron into different domains is essential for its function and is well conserved among vertebrates. Zebrafish has been extensively used as a model to understand nephron segmentation during development. Read More

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http://dx.doi.org/10.1186/s13578-018-0253-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192171PMC
October 2018

Disrupted Coupling Between the Spontaneous Fluctuation and Functional Connectivity in Idiopathic Generalized Epilepsy.

Front Neurol 2018 5;9:838. Epub 2018 Oct 5.

The Clinical Hospital of Chengdu Brain Science Institute, MOE Key Lab for Neuroinformation, Center for Information in Medicine, High-Field Magnetic Resonance Brain Imaging Key Laboratory of Sichuan Province, School of Life Science and Technology, University of Electronic Science and Technology of China, Chengdu, China.

The purpose of this study was to comprehensively evaluate alterations of resting-state spontaneous brain activity in patients with idiopathic generalized epilepsy (IGE) and its subgroups [juvenile myoclonic epilepsy (JME) and generalized tonic-clonic seizures (GTCS)]. Resting state functional magnetic resonance imaging (fMRI) data were acquired from 60 patients with IGE and 60 healthy controls (HCs). Amplitude of low frequency fluctuation (ALFF), global functional connectivity density (gFCD), local FCD (lFCD), and long range FCD (lrFCD) were used to evaluate spontaneous brain activity in the whole brain. Read More

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http://dx.doi.org/10.3389/fneur.2018.00838DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182059PMC
October 2018
1 Read

Progressive dissociation of cortical and subcortical network development in children with new-onset juvenile myoclonic epilepsy.

Epilepsia 2018 Nov 3;59(11):2086-2095. Epub 2018 Oct 3.

Department of Medical Physics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.

Objective: Structural and functional magnetic resonance imaging (MRI) studies have consistently documented cortical and subcortical abnormalities in patients with juvenile myoclonic epilepsy (JME). However, little is known about how these structural abnormalities emerge from the time of epilepsy onset and how network interactions between and within cortical and subcortical regions may diverge in youth with JME compared to typically developing children.

Methods: We examined prospective covariations of volumetric differences derived from high-resolution structural MRI during the first 2 years of epilepsy diagnosis in a group of youth with JME (n = 21) compared to healthy controls (n = 22). Read More

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http://doi.wiley.com/10.1111/epi.14560
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http://dx.doi.org/10.1111/epi.14560DOI Listing
November 2018
4 Reads
4.570 Impact Factor

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the American Epilepsy Society and the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Epilepsy Curr 2018 Jul-Aug;18(4):269-278

15New York University, New York City, NY.

To update the 2004 American Academy of Neurology (AAN) guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). 2004 criteria were used to systematically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. Forty-two articles were included. Read More

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http://dx.doi.org/10.5698/1535-7597.18.4.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145395PMC
September 2018
1 Read

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the American Epilepsy Society and the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Epilepsy Curr 2018 Jul-Aug;18(4):260-268

15Department of Neurology, New York University Langone Comprehensive Epilepsy Center, New York.

To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy (GE) with second- and third-generation antiepileptic drugs (AEDs). The 2004 AAN criteria was used to systematically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength. Several second-generation AEDs are effective for new-onset focal epilepsy. Read More

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http://dx.doi.org/10.5698/1535-7597.18.4.260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145382PMC
September 2018
6 Reads

Prognosis of Juvenile myoclonic epilepsy with eye-closure sensitivity.

Seizure 2018 Nov 17;62:17-25. Epub 2018 Sep 17.

Unidade de Pesquisa e Tratamento das Epilepsias, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address:

Purpose: Eye closure sensitivity (ECS) has been described as a reflex trait in juvenile myoclonic epilepsy (JME). However, there is no consensus regarding its significance on prognosis. The aim of this study is to clarify the long-term impact of ECS documented by a clinical interview and a video-EEG neuropsychological protocol (VNPP) in a series of 133 JME patients. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.09.006DOI Listing
November 2018
5 Reads

Refractory juvenile myoclonic epilepsy: a meta-analysis of prevalence and risk factors.

Eur J Neurol 2018 Sep 17. Epub 2018 Sep 17.

Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht.

Background And Purpose: Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome for which treatment response is generally assumed to be good. We aimed to determine the prevalence and prognostic risk factors for refractoriness of JME.

Methods: We systematically searched PubMed and EMBASE and included 43 eligible studies, reporting seizure outcome after antiepileptic drug (AED) treatment in JME cohorts. Read More

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http://dx.doi.org/10.1111/ene.13811DOI Listing
September 2018
9 Reads
4.050 Impact Factor

Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study.

Epilepsia 2018 Sep 31;59(9):1740-1752. Epub 2018 Jul 31.

University Hospital Vall d'Hebrón, Barcelona, Spain.

Objective: To analyze the effectiveness and tolerability of perampanel across different seizure types in routine clinical care of patients with idiopathic generalized epilepsy (IGE).

Methods: This multicenter, retrospective, 1-year observational study collected data from patient records at 21 specialist epilepsy units in Spain. All patients who were aged ≥12 years, prescribed perampanel before December 2016, and had a confirmed diagnosis of IGE were included. Read More

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http://doi.wiley.com/10.1111/epi.14522
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http://dx.doi.org/10.1111/epi.14522DOI Listing
September 2018
40 Reads

Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.

Seizure 2018 Oct 18;61:1-3. Epub 2018 Jul 18.

Child Neurology and Psychiatry Unit, ASST Civil Hospital -Brescia, Italy. Electronic address:

Purpose: Children with Childhood Absence Epilepsy (CAE) may develop generalized tonic-clonic seizure or juvenile myoclonic epilepsy. A possible evolution to Eyelid Myoclonia with Absence Epilepsy (EMA) hasn't been documented yet. We report the electroclinical features of a case series of children with CAE that evolved to EMA after therapy withdrawal. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.07.009DOI Listing
October 2018

Praxis-induced myoclonia: From the neurophysiologist to the patient perspective.

Seizure 2018 Aug 30;60:184-189. Epub 2018 Jun 30.

Unidade de Pesquisa e Tratamento das Epilepsias (UNIPETE), Universidade Federal de São Paulo (UNIFESP/EPM), São Paulo, SP, Brazil. Electronic address:

Purpose: To characterize semiology and EEG features of praxis-induced (PI) myoclonia and to describe the subjective perception of juvenile myoclonic epilepsy (JME) patients with this reflex trait.

Methods: Patients with JME who presented myoclonia during a Video-EEG Neuropsychological Protocol were selected. We analyzed the semiology of upper limbs myoclonia and the ictal EEG patterns on Video-EEG. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.06.022DOI Listing
August 2018
9 Reads

Higher IQ in juvenile myoclonic epilepsy: Dodging cognitive obstacles and "masking" impairments.

Epilepsy Behav 2018 Sep 14;86:124-130. Epub 2018 Jul 14.

Laboratory of Clinical Neurophysiology, Psychiatry Department, University of São Paulo (USP) School of Medicine, São Paulo, SP, Brazil; Group for the Study of Cognitive and Psychiatric Disorders in Epilepsy-Clinics Hospital, University of São Paulo (USP), Brazil; Center for Interdisciplinary Research on Applied Neurosciences (NAPNA), University of São Paulo (USP), Brazil.

Executive deficits and impulsiveness are extensively reported in juvenile myoclonic epilepsy (JME). Previous literature suggests that intelligence may mediate these deficits. In this study, we evaluated and compared the performance of adults with JME with high and low intelligence quotient (IQ) and controls on tasks for executive function (EF) and impulsive traits. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.05.029DOI Listing
September 2018
7 Reads

Frontal lobe cognitive functions and electroencephalographic features in juvenile myoclonic epilepsy.

Epilepsy Behav 2018 Sep 13;86:102-107. Epub 2018 Jul 13.

Bakirkoy Research and Training Hospital for Psychiatry, Neurology, Neurosurgery, Department of Neurology, Istanbul, Turkey.

Purpose: The study aimed to examine the relationship between frontal lobe functions and interictal electroencephalography (EEG) discharge characteristics of patients with juvenile myoclonic epilepsy (JME).

Method: Thirty patients with JME who had EEG with asymmetrical generalized discharge (aEEG), 15 patients with JME who had EEG with symmetrical generalized discharge (sEEG), and 15 healthy controls were included in the study. To evaluate attention, the digit span and Corsi block tests were used; to evaluate memory, we applied verbal and visual memory tests; to evaluate frontal lobe functions, we used clock drawing, verbal fluency, the Stroop test, trail making, mental control, and antisaccadic eye movement tests as well as the continuous performance (CPT) tests. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.06.009DOI Listing
September 2018
5 Reads

Juvenile Myoclonic Epilepsy Shows Potential Structural White Matter Abnormalities: A TBSS Study.

Front Neurol 2018 29;9:509. Epub 2018 Jun 29.

Department of Neurology, Epilepsy Center, University Medicine Greifswald, Greifswald, Germany.

Several studies on patients with juvenile myoclonic epilepsy (JME) showed widespread white matter (WM) abnormalities in the brain. The aim of this study was to investigate potential structural abnormalities in JME patients (1) compared to healthy controls, (2) among JME subgroups with or without photoparoxysmal responses (PPR), and (3) in correlation with clinical variables. A selection of 31 patients with JME (12 PPR positive) and 27 age and gender matched healthy controls (HC) were studied at a tertiary epilepsy center. Read More

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http://dx.doi.org/10.3389/fneur.2018.00509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6033991PMC
June 2018
13 Reads

Modulation of epileptiform EEG discharges in patients with JME.

Seizure 2018 Aug 28;60:139-143. Epub 2018 Jun 28.

Department of Neurology, GIPMER, New Delhi, India.

Purpose: To study modulation of epileptiform EEG discharges in patients with JME.

Method: 50 subjects with JME underwent a sleep deprived EEG recording along with conventional provocative methods and testing with cognitive tasks (CTs). Both categories of tests were evaluated for their effect on occurrence of IEDs. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.06.018DOI Listing
August 2018
1 Read

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Epilepsia 2018 Aug 4;59(8):e125-e129. Epub 2018 Jul 4.

Epilepsy Research Centre, Austin Health, University of Melbourne, Heidelberg, Victoria, Australia.

The clinical genetics of genetic generalized epilepsy suggests complex inheritance; large pedigrees, with multiple affected individuals, are rare exceptions. We studied a large consanguineous family from Turkey where extensive electroclinical phenotyping revealed a familial phenotype most closely resembling juvenile myoclonic epilepsy. For a subject to be considered affected (n = 14), a diagnostic electroencephalogram was required. Read More

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http://dx.doi.org/10.1111/epi.14506DOI Listing
August 2018
12 Reads

Changes in Dynamics Within and Between Resting-State Subnetworks in Juvenile Myoclonic Epilepsy Occur at Multiple Frequency Bands.

Front Neurol 2018 14;9:448. Epub 2018 Jun 14.

Gansu Provincial Key Laboratory of Wearable Computing, School of Information Science and Engineering, Lanzhou University, Lanzhou, China.

Time-varying connectivity analyses have indicated idiopathic generalized epilepsy (IGE) could cause significant abnormalities in dynamic connective pattern within and between resting-state sub-networks (RSNs). However, previous studies mainly focused on the IGE-induced dynamic changes of functional connectivity (FC) in specific frequency band (0.01-0. Read More

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http://dx.doi.org/10.3389/fneur.2018.00448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010515PMC
June 2018
6 Reads

Reduction of ipsilateral thalamic volume in temporal lobe epilepsy with hippocampal sclerosis.

J Clin Neurosci 2018 Sep 27;55:76-81. Epub 2018 Jun 27.

Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea. Electronic address:

The thalamus plays an important role in the modulation of both focal and generalized seizures, but the mechanisms related to seizures may be different among epilepsy syndromes. The aim of this study is to investigate the thalamic atrophy in different epilepsy syndromes. We enrolled a total of 72 patients with epilepsy (22 patients with temporal lobe epilepsy with hippocampal sclerosis, 21 patients with extra-temporal lobe epilepsy, and 29 patients with juvenile myoclonic epilepsy). Read More

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http://dx.doi.org/10.1016/j.jocn.2018.06.025DOI Listing
September 2018

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Neurogenetics 2018 Aug 12;19(3):165-178. Epub 2018 Jun 12.

UPMC Univ Paris 06, Inserm, CNRS, APHP, Institut du Cerveau et la Moelle (ICM), Hôpital Pitié-Salpêtrière, Sorbonne Universités, Paris, France.

Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult. Read More

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http://dx.doi.org/10.1007/s10048-018-0550-zDOI Listing
August 2018
12 Reads

Use of brivaracetam in genetic generalized epilepsies and for acute, intravenous treatment of absence status epilepticus.

Epilepsia 2018 Aug 25;59(8):1549-1556. Epub 2018 Jun 25.

Epilepsy Center Frankfurt Rhine-Main, Department of Neurology, Goethe University, Frankfurt am Main, Germany.

Objective: The objective of this study was to evaluate effectiveness, retention, and tolerability of brivaracetam (BRV) in genetic generalized epilepsies (GGE) in clinical practice.

Methods: A multicenter, retrospective cohort study recruiting all patients that started BRV in 2016 and 2017.

Results: A total of 61 patients (mean age = 29. Read More

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http://dx.doi.org/10.1111/epi.14476DOI Listing
August 2018
15 Reads

Ictal Cardiorespiratory Arrest Associated with Status Epilepticus in Panayiotopoulos Syndrome.

Acta Med Okayama 2018 Jun;72(3):297-300

Department of Emergency and Critical Care Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama 700-8558, Japan.

A healthy 10-year-old boy vomited during sleep and later complained of abdominal pain; he became drowsy and uncommunicative. At the nearby hospital E.R. Read More

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http://dx.doi.org/10.18926/AMO/56076DOI Listing
June 2018
10 Reads

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

PLoS One 2018 20;13(6):e0199321. Epub 2018 Jun 20.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi-gene panel testing with next-generation sequencing. This study included patients with juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0199321PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010271PMC
June 2018
4 Reads

Idiopathic generalised epilepsies of adult onset: a reappraisal and literature review.

Epileptic Disord 2018 Jun;20(3):169-177

Center of Neuroscience, Swammerdam Institute for Life Sciences, University of Amsterdam, The Netherlands, Department of Bioengineering, Instituto Superior Técnico, University of Lisbon, Portugal.

Idiopathic generalised epilepsies are characterised by widespread, symmetric, bilateral spike-and-wave discharges on EEG. Onset typically occurs in children and adolescents, but may also start in adulthood. These forms of adult onset constitute the focus of this review. Read More

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http://dx.doi.org/10.1684/epd.2018.0976DOI Listing

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.

Neurology 2018 Jul 13;91(2):82-90. Epub 2018 Jun 13.

From Miller School of Medicine (A.M.K.), University of Miami, FL; Bronson Methodist Hospital (E.A.), Kalamazoo, MI; Charleston Area Medical Center (D.G.), Charleston, WV; Mount Sinai Beth Israel (C.H.), New York, NY; Children's Hospital, Harvard Medical School (B.B.), Boston, MA; Cleveland Clinic Foundation (J.F.B.), OH; Department of Neurology (B.-A.K.), School of Medicine, Nashville, TN; Cooper Medical School (E.B.-D.), Rowan University, Cherry Hill, NJ; Alexian Brothers Medical Group (E.L.P.), Hoffman Estates, IL; School of Medicine (J.S.), University of California in Los Angeles; University of Vermont Medical Center (D.H.), Burlington; Children's Hospital (M.N.), University of California San Diego School of Medicine; School of Pharmacy (B.G.), University of Wisconsin, Madison; Emory University School of Medicine (E.F.), Atlanta, GA; and New York University (J.F.), New York.

Objective: To update the 2004 American Academy of Neurology guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs).

Methods: 2004 criteria were used to systemically review literature (January 2003 to November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength.

Results: Forty-two articles were included. Read More

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http://dx.doi.org/10.1212/WNL.0000000000005756DOI Listing
July 2018
14 Reads

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.

Neurology 2018 Jul 13;91(2):74-81. Epub 2018 Jun 13.

From the Miller School of Medicine (A.M.K.), University of Miami, FL; Bronson Neuroscience Center (E.A.), Bronson Methodist Hospital, Kalamazoo, MI; Department of Neurology (D.G.), Charleston Area Medical Center, Charleston, WV; Department of Neurology (C.H.), Mount Sinai Beth Israel, New York, NY; Children's Hospital (B.B.), Harvard Medical School, Boston, MA; Epilepsy Center (J.F.B.), Cleveland Clinic Foundation, OH; Department of Neurology (B.A.-K.), Vanderbilt University, Nashville, TN; Department of Neurology (E.B.-D.), Cooper Medical School, Rowan University, Cherry Hill, NJ; AMITA Health Medical Group (E.L.P.), Hoffman Estates, IL; School of Medicine (J.S.), University of California, Los Angeles; School of Medicine (D.H.), University of Vermont, Burlington; Children's Hospital (M.N.), University of California San Diego School of Medicine; School of Pharmacy (B.G.), University of Wisconsin, Madison; School of Medicine (E.F.), Emory University, Atlanta, GA; and Department of Neurology (J.F.), New York University Langone Comprehensive Epilepsy Center, New York.

Objective: To update the 2004 American Academy of Neurology (AAN) guideline for treating new-onset focal or generalized epilepsy with second- and third-generation antiepileptic drugs (AEDs).

Methods: The 2004 AAN criteria were used to systematically review literature (January 2003-November 2015), classify pertinent studies according to the therapeutic rating scheme, and link recommendations to evidence strength.

Results: Several second-generation AEDs are effective for new-onset focal epilepsy. Read More

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http://dx.doi.org/10.1212/WNL.0000000000005755DOI Listing
July 2018
21 Reads

[Valproate in the treatment of epilepsy and status epilepticus].

Ideggyogy Sz 2017 Jul;70(7-8):258-264

Pécsi Tudományegyetem, Neurológiai Klinika, Pécs.

According to Hungarian guidelines, valproate - with the exception of infants and small children as well as fertile women - is the first drug of choice in generalized and unclassified epilepsies because it is effective in most seizure types and epilepsy syndromes. It is highly effective in juvenile myoclonic epilepsy. Even though it is not the first-line drug in focal epilepsies, if the first-line therapy is ineffective, it is a plausible alternative as second choice therapy, owing to its different mechanism of action. Read More

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http://dx.doi.org/10.18071/isz.70.0258DOI Listing
July 2017
14 Reads

Expression analysis of beta-secretase 1 (BACE1) and its naturally occurring antisense (BACE1-AS) in blood of epileptic patients.

Neurol Sci 2018 Sep 2;39(9):1565-1569. Epub 2018 Jun 2.

Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Beta-secretase 1 (BACE1) gene encodes a transmembrane protease from the peptidase A1 family of aspartic proteases whose role in the pathogenesis of Alzheimer's disease has been assessed. The enzymatic activity of BACE1 on several proteins implicated in epileptogenesis implies its role in the pathogenesis of epilepsy. In the present study, we assessed expression of BACE1 and its naturally occurring antisense (BACE1-AS) in peripheral blood of 40 epileptic patients and 40 age- and sex-matched healthy subjects. Read More

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http://link.springer.com/10.1007/s10072-018-3458-3
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http://dx.doi.org/10.1007/s10072-018-3458-3DOI Listing
September 2018
6 Reads

Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy.

Seizure 2018 Jul 20;59:116-122. Epub 2018 May 20.

School of Medicine, University of Nottingham, Nottingham, NG7 2UH, United Kingdom; Department of Paediatric Neurology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, NG7 2UH, United Kingdom. Electronic address:

Purpose: Conventional teaching is that juvenile myoclonic epilepsy (JME) and juvenile absence epilepsy (JAE) require lifelong antiepileptic drug (AED) treatment. We therefore wanted to determine how many patients attending our epilepsy service with JAE or JME went into 2 year remission, and then relapsed, both off and on AEDs.

Method: This was a retrospective case-notes review. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183013
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http://dx.doi.org/10.1016/j.seizure.2018.05.015DOI Listing
July 2018
2 Reads

Transcranial magnetic stimulation in myoclonus of different aetiologies.

Brain Res Bull 2018 Jun 24;140:258-269. Epub 2018 May 24.

Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg, Austria; Centre for Cognitive Neurosciences Salzburg, Salzburg, Austria; University for Medical Informatics and Health Technology, UMIT, Hall in Tirol, Austria.

Transcranial magnetic stimulation (TMS) may represent a valuable tool for investigating important neurophysiological and pathophysiological aspects of myoclonus. Moreover, repetitive TMS (rTMS) can influence neural activity. In this review we performed a systematic search of all studies using TMS in order to explore cortical excitability/plasticity and rTMS for the treatment of myoclonus due to different aetiologies. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03619230183004
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http://dx.doi.org/10.1016/j.brainresbull.2018.05.016DOI Listing
June 2018
11 Reads
2.720 Impact Factor

Association of GABAA Receptor Gene with Epilepsy Syndromes.

J Mol Neurosci 2018 Jun 21;65(2):141-153. Epub 2018 May 21.

Maulana Azad Medical College and Associated Hospitals, Bahadur Shah Zafar Marg, New Delhi, 110002, India.

GABA has always been an inviting target in the etiology and treatment of epilepsy. The GABRA1, GABRG2, and GABRD genes provide instructions for making α1, ϒ2, and δ subunits of GABAA receptor protein respectively. GABAA is considered as one of the most important proteins and has found to play an important role in many neurological disorders. Read More

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http://dx.doi.org/10.1007/s12031-018-1081-7DOI Listing
June 2018
5 Reads
2.340 Impact Factor

Myoclonic Jerks and Schizophreniform Syndrome: Case Report and Literature Review.

Front Psychiatry 2018 1;9:161. Epub 2018 May 1.

Section for Experimental Neuropsychiatry, Department of Psychiatry and Psychotherapy, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Read More

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http://dx.doi.org/10.3389/fpsyt.2018.00161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946012PMC
May 2018
4 Reads

The genetic basis of juvenile myoclonic epilepsy.

Lancet Neurol 2018 Jun;17(6):493-495

Consiglio Nazionale delle Ricerche Neuroscience Institute and Department of Biomedical Sciences, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1016/S1474-4422(18)30173-XDOI Listing
June 2018
2 Reads

Juvenile Myoclonic Epilepsy Presenting with Neurocognitive Impairment: A Case Report.

Cureus 2018 Mar 5;10(3):e2271. Epub 2018 Mar 5.

Civil Hospital Karachi, Dow University of Health Sciences (DUHS), Karachi, Pakistan.

Juvenile myoclonic epilepsy (JME) is a genetically and clinically diverse disorder which is characterized by myoclonic jerks, usually after awakening from sleep. It affects both genders equally and manifests during the second decade of life. The various precipitating factors include stress, light, sleep deprivation, and alcohol. Read More

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http://dx.doi.org/10.7759/cureus.2271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935437PMC
March 2018
6 Reads

Predictive factors of higher drug load for seizure freedom in idiopathic generalized epilepsy: Comparison between juvenile myoclonic epilepsy and other types.

Epilepsy Res 2018 08 23;144:20-24. Epub 2018 Apr 23.

Department of Epileptology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

Purpose: Predictive factors of higher drug load for seizure freedom were investigated in idiopathic generalized epilepsy (IGE), focusing on the difference between juvenile myoclonic epilepsy (JME) and other types of IGE (non-JME IGE).

Methods: Twelve patients with JME and 12 patients with non-JME IGE, who achieved seizure freedom for 1 year or longer with appropriate antiepileptic drugs (AEDs) after video electroencephalography monitoring, were reviewed retrospectively. The sum of prescribed daily dose/defined daily dose ratio of all prescribed AEDs at the final visit was defined as total AED load. Read More

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http://dx.doi.org/10.1016/j.eplepsyres.2018.04.009DOI Listing
August 2018
2 Reads

Tap seizures in infancy: A critical review.

Seizure 2018 Jul 23;59:11-15. Epub 2018 Apr 23.

Child Neuropsychiatric Unit, Neuroscience Department, University of Parma, Parma, Italy.

Tap seizure is a type of reflex myoclonic epilepsy in which seizures are evoked mainly by unexpected tactile stimuli and which is classified among the electroclinical syndromes of infancy. This condition, whose onset is in the first two years of life, is characterized by excellent prognosis and is extremely rare. We reviewed all published articles and case reports on Reflex Myoclonic Epilepsies focusing on touch-induced seizures in order to clarify clinical and electroencephalographic findings. Read More

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http://dx.doi.org/10.1016/j.seizure.2018.04.013DOI Listing
July 2018
3 Reads

Uncertainties from a worldwide survey on antiepileptic drug withdrawal after seizure remission.

Neurol Clin Pract 2018 Apr;8(2):108-115

Clinical Epilepsy Section (LB) and Stroke Diagnostics and Therapeutics Section (SM), National Institute of Neurological Disorders and Stroke, Bethesda, MD; Center for Neuroscience (LB), George Washington University, Children's National Health System; and Department of Neurology (SM, MZK), George Washington University Hospital, Washington, DC.

Background: We sought to determine differences in practice for discontinuation of antiepileptic drugs (AEDs) after seizure remission and stimulate the planning and conduction of withdrawal trials.

Methods: We utilized a worldwide electronic survey that included questions about AED discontinuation for 3 paradigmatic cases in remission: (1) focal epilepsy of unknown etiology, (2) temporal lobe epilepsy after surgery, and (3) juvenile myoclonic epilepsy. We analyzed 466 complete questionnaires from 53 countries, including the United States. Read More

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http://dx.doi.org/10.1212/CPJ.0000000000000441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914742PMC
April 2018
1 Read

Valproate and childbearing potential: new regulations.

Pract Neurol 2018 06 23;18(3):176-178. Epub 2018 Apr 23.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1136/practneurol-2018-001955DOI Listing

Altered Structural and Functional Connectivity of Juvenile Myoclonic Epilepsy: An fMRI Study.

Neural Plast 2018 26;2018:7392187. Epub 2018 Feb 26.

Department of Neurology, Chongzhou People's Hospital, Chongzhou, Sichuan, China.

The aim of this study was to investigate the structural and functional connectivity (FC) of juvenile myoclonic epilepsy (JME) using resting state functional magnetic resonance imaging (rs-fMRI). High-resolution T1-weighted magnetic resonance imaging (MRI) and rs-fMRI data were collected in 25 patients with JME and in 24 control subjects. A FC analysis was subsequently performed, with seeding at the regions that demonstrated between-group differences in gray matter volume (GMV). Read More

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http://dx.doi.org/10.1155/2018/7392187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846383PMC
November 2018
6 Reads

Risky Decision Making in Juvenile Myoclonic Epilepsy.

Front Neurol 2018 26;9:195. Epub 2018 Mar 26.

Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.

It is not known whether patients with juvenile myoclonic epilepsy (JME) differ from healthy people in decision making under risk, i.e., when the decision-making context offers explicit information about options, probabilities, and consequences already from the beginning. Read More

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http://dx.doi.org/10.3389/fneur.2018.00195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879545PMC

Language function in childhood idiopathic epilepsy syndromes.

Brain Lang 2018 Mar 30. Epub 2018 Mar 30.

Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States. Electronic address:

Purpose: To examine the impact of diverse syndromes of focal and generalized epilepsy on language function in children with new and recent onset epilepsy. Of special interest was the degree of shared language abnormality across epilepsy syndromes and the unique effects associated with specific epilepsy syndromes.

Methods: Participants were 136 youth with new or recent-onset (diagnosis within past 12 months) epilepsy and 107 healthy first-degree cousin controls. Read More

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http://dx.doi.org/10.1016/j.bandl.2017.12.005DOI Listing
March 2018
3 Reads

DNA methylation of the BRD2 promoter is associated with juvenile myoclonic epilepsy in Caucasians.

Epilepsia 2018 05 2;59(5):1011-1019. Epub 2018 Apr 2.

Battelle Center for Mathematical Medicine, Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.

Objective: 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 murine model; Brd2 haploinsufficiency produces characteristics that typify the clinical hallmarks of JME. Read More

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http://dx.doi.org/10.1111/epi.14058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5934302PMC
May 2018
4 Reads

Juvenile myoclonic epilepsy refractory to treatment in a tertiary referral center.

Epilepsy Behav 2018 05 27;82:81-86. Epub 2018 Mar 27.

NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Chalfont Centre for Epilepsy, Chalfont St Peter, Bucks SL9 8ES, UK; Stichting Epilepsie Instellingen Nederland (SEIN), Achterweg 5, 2103SW Heemstede, Netherlands.

Introduction: Juvenile myoclonic epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Individuals with JME, however, often require lifelong therapy to remain seizure-free, and a few have refractory epilepsy. We ascertained a population with JME and characterized a subgroup with refractory epilepsy. Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.03.002DOI Listing
May 2018
1 Read
2.260 Impact Factor

Panayiotopoulos syndrome and benign partial epilepsy with centro-temporal spikes: A comparative incidence study.

Seizure 2018 Apr 5;57:66-69. Epub 2018 Mar 5.

Alder Hey Children's Hospital, Liverpool, United Kingdom.

Purpose: To compare the de novo incidence of Panayiotopoulos syndrome (PS, early-onset childhood occipital epilepsy) and a common epilepsy syndrome, benign epilepsy with centro-temporal spikes (BECTS), in children and young people.

Methods: The incidence of PS and BECTS was recorded over 16 months in a population of children and young people (aged <16 years) living within a specific geographic area and epilepsy network within the North West of England and North Wales and the catchment area of the tertiary paediatric epilepsy centre. Monthly data collection proformas were circulated to the paediatricians and paediatric neurologists responsible for the evaluation of epilepsy in children within this area. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10591311173079
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http://dx.doi.org/10.1016/j.seizure.2018.03.002DOI Listing
April 2018
5 Reads