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Juvenile myoclonic epilepsy

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https://www.readbyqxmd.com/read/28256379/outcome-of-childhood-onset-epilepsy-from-adolescence-to-adulthood-transition-issues
#1
REVIEW
R Nabbout, D M Andrade, N Bahi-Buisson, H Cross, I Desquerre, O Dulac, T Granata, E Hirsch, V Navarro, L Ouss, P L Pearl, D Schmidt, E Thiele, P R Camfield, C S Camfield
This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders)...
February 27, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28239547/unmasking-of-myoclonus-by-lacosamide-in-generalized-epilepsy
#2
Daniel Birnbaum, Mohamad Koubeissi
Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials. We report a 67-year-old woman who experienced new-onset myoclonic seizures after initiation of lacosamide. We presume that she had an undiagnosed generalized epilepsy syndrome, likely juvenile myoclonic epilepsy. Myoclonic seizures were not reported before introducing lacosamide and completely resolved after lacosamide was discontinued...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28223533/generalized-myoclonic-epilepsy-with-photosensitivity-in-juvenile-dogs-caused-by-a-defective-diras-family-gtpase-1
#3
Franziska Wielaender, Riika Sarviaho, Fiona James, Marjo K Hytönen, Miguel A Cortez, Gerhard Kluger, Lotta L E Koskinen, Meharji Arumilli, Marion Kornberg, Andrea Bathen-Noethen, Andrea Tipold, Kai Rentmeister, Sofie F M Bhatti, Velia Hülsmeyer, Irene C Boettcher, Carina Tästensen, Thomas Flegel, Elisabeth Dietschi, Tosso Leeb, Kaspar Matiasek, Andrea Fischer, Hannes Lohi
The clinical and electroencephalographic features of a canine generalized myoclonic epilepsy with photosensitivity and onset in young Rhodesian Ridgeback dogs (6 wk to 18 mo) are described. A fully penetrant recessive 4-bp deletion was identified in the DIRAS family GTPase 1 (DIRAS1) gene with an altered expression pattern of DIRAS1 protein in the affected brain. This neuronal DIRAS1 gene with a proposed role in cholinergic transmission provides not only a candidate for human myoclonic epilepsy but also insights into the disease etiology, while establishing a spontaneous model for future intervention studies and functional characterization...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28215998/photosensitivity-in-generalized-epilepsies
#4
REVIEW
Shervonne Poleon, Jerzy P Szaflarski
Photosensitivity, which is the hallmark of photosensitive epilepsy (PSE), is described as an abnormal EEG response to visual stimuli known as a photoparoxysmal response (PPR). The PPR is a well-recognized phenomenon, occurring in 2-14% of patients with epilepsy but its pathophysiology is not clearly understood. PPR is electrographically described as 2-5Hz spike, spike-wave, or slow wave complexes with frontal and paracentral prevalence. Diagnosis of PPR is confirmed using intermittent photic stimulation (IPS) as well as video monitoring...
February 16, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28157601/prognostic-factors-in-patients-with-refractory-idiopathic-generalized-epilepsy
#5
A Gomez-Ibañez, R S McLachlan, S M Mirsattari, D C Diosy, J G Burneo
OBJECTIVE: Idiopathic generalized epilepsy (IGE) is an epileptic condition with good response to antiepileptic drugs (AED). Major syndromes are epilepsy with generalized tonic-clonic seizures (GTCS) alone, absence epilepsy and juvenile myoclonic epilepsy. However, clinical practice shows drug-resistant patients. Endpoint is to identify clinical features related with refractoriness in IGE and in its each individual syndrome. METHODS: We retrospectively collected 279 consecutive patients with IGE assessed in the Epilepsy Clinic of our institution...
February 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28074997/-classification-of-idiopathic-generalised-epilepsies-in-patients-over-16-years-of-age
#6
J Sala-Padro, M Toledo, E Santamarina, M Gonzalez-Cuevas, M Raspall-Chaure, M Sueiras-Gil, M Quintana, J Salas-Puig
INTRODUCTION: Idiopathic generalised epilepsies (IGE) are a set of electroclinical syndromes with different phenotypes. Our aim is to analyse those phenotypes in patients over 16 years of age. PATIENTS AND METHODS: We conducted a retrospective analysis of a series of patients with IGE. They were classified as childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), epilepsy with tonic-clonic seizures only (TCSE), epilepsy with eyelid myoclonias and absences (EMA) and pure photogenic epilepsy (PE)...
January 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28060866/patterns-of-gray-matter-abnormalities-in-idiopathic-generalized-epilepsy-a-meta-analysis-of-voxel-based-morphology-studies
#7
Guo Bin, Tianfu Wang, Hongwu Zeng, Xiaoming He, Feng Li, Jian Zhang, Bingsheng Huang
OBJECTIVE: We aimed to identify the consistent regions of gray matter volume (GMV) abnormalities in idiopathic generalized epilepsy (IGE), and to study the difference of GMV abnormalities among IGE subsyndromes by applying activation likelihood estimation (ALE) meta-analysis. METHODS: A systematic review of VBM studies on GMV of patients with absence epilepsy (AE), juvenile myoclonic epilepsy (JME), IGE and controls indexed in PubMed and ScienceDirect from January 1999 to June 2016 was conducted...
2017: PloS One
https://www.readbyqxmd.com/read/28025856/exploring-psychiatric-comorbidities-and-their-effects-on-quality-of-life-in-patients-with-temporal-lobe-epilepsy-and-juvenile-myoclonic-epilepsy
#8
Devrimsel Harika Ertem, Ayten Ceyhan Dirican, Agah Aydın, Sevim Baybas, Vedat Sözmen, Musa Ozturk, Yavuz Altunkaynak
AIM: The relation of epilepsy with psychiatric disorders is of great interest to researchers due to its behavioral, social and cognitive outcomes. In this study, we explored psychiatric comorbidity and its effects on quality of life in patients with mesial temporal lobe epilepsy (MTLE) and juvenile myoclonic epilepsy (JME). METHOD: Thirthy patients with MTLE, 30 patients with JME and 30 healthy controls were administered structured clinical interview for DSM-IV (SCID-I) to diagnose psychiatric disorders...
December 27, 2016: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28012415/comparing-sleep-profiles-between-patients-with-juvenile-myoclonic-epilepsy-and-symptomatic-partial-epilepsy-sleep-questionnaire-based-study
#9
Nashi Saraswati, Chetan Nayak, Sanjib Sinha, Madhu Nagappa, Kandavel Thennarasu, Arun B Taly
OBJECTIVES: Patients with epilepsy commonly report excessive daytime sleepiness and daytime fatigue, which may be attributed to the direct effect of seizures, a side effect of antiepileptic drugs or a combination of the two. The aim of the study was to compare sleep profiles in patients with juvenile myoclonic epilepsy (JME) and symptomatic partial epilepsy (PE) in drug naïve and treated patients using standardized sleep questionnaires. METHODS: Three study groups: - 1) juvenile myoclonic epilepsy (N=40) [drug naïve (N=20); On sodium valproate (SVA) (N=20)]; 2) symptomatic partial epilepsy (N=40) [drug naïve (N=20); On carbamazepine (CBZ) (N=20)]; 3) healthy controls (N=40) completed 3 standardized sleep questionnaires - Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index, and NIMHANS Comprehensive Sleep Disorders Questionnaire...
December 21, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27965623/transcranial-alternating-current-stimulation-a-potential-risk-for-genetic-generalized-epilepsy-patients-study-case
#10
Daniel San-Juan, Carlos Ignacio Sarmiento, Axel Hernandez-Ruiz, Ernesto Elizondo-Zepeda, Gabriel Santos-Vázquez, Gerardo Reyes-Acevedo, Héctor Zúñiga-Gazcón, Carol Marina Zamora-Jarquín
Transcranial alternating current stimulation (tACS) is a re-emergent neuromodulation technique that consists in the external application of oscillating electrical currents that induces changes in cortical excitability. We present the case of a 16-year-old female with pharmaco-resistant juvenile myoclonic epilepsy to 3 antiepileptic's drugs characterized by 4 myoclonic and 20 absence seizures monthly. She received tACS at 1 mA at 3 Hz pulse train during 60 min over Fp1-Fp2 (10-20 EEG international system position) during 4 consecutive days using an Endeavor™ IOM Systems device(®) (Natus Medical Incorporated, Middleton, WI, USA)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27923174/generalized-epilepsy-syndromes-and-callosal-thickness-differential-effects-between-patients-with-juvenile-myoclonic-epilepsy-and-those-with-generalized-tonic-clonic-seizures-alone
#11
Stavroula Anastasopoulou, Florian Kurth, Eileen Luders, Ivanka Savic
PURPOSE: The definition of two well-studied genetic generalized epilepsy syndromes (GGE) - juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures alone (GTCS) - suggests the absence of structural cerebral abnormalities. Nevertheless, there are various reports of such abnormalities (especially in JME), where effects mainly occur within thalamus and mesial prefrontal regions. This raises the question of whether JME is particularly linked to midline structure abnormalities, which may also involve the corpus callosum...
November 18, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27918962/source-localization-of-epileptiform-discharges-in-juvenile-myoclonic-epilepsy-jme-using-magnetoencephalography-meg
#12
Veeranna Gadad, Sanjib Sinha, Narayanan Mariyappa, Ganne Chaithanya, Velmurugan Jayabal, Jitender Saini, Kandivel Thennarasu, Parthasarathy Satishchandra
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 onset to offset, for inferring the cortical and subcortical region of involvement. METHODS: Twenty patients (age 23.5±6.3years old) with JME were recruited in this prospective study. MEG source analysis was performed on the independently collected EDs of each patient...
January 2017: Epilepsy Research
https://www.readbyqxmd.com/read/27912171/the-topographical-distribution-of-epileptic-spikes-in-juvenile-myoclonic-epilepsy-with-and-without-photosensitivity
#13
P R Bauer, K Gorgels, W Spetgens, N E C van Klink, F S S Leijten, J W Sander, G H Visser, M Zijlmans
OBJECTIVE: Up to 30% of people with juvenile myoclonic epilepsy (JME) have photoparoxysmal responses (PPR). Recent studies report on structural and pathophysiological differences between people with JME with (JME+PPR) and without PPR (JME-PPR). We investigated whether electrophysiological features outside photic stimulation differ between these subtypes. METHODS: We analysed EEG recordings of people with JME at a tertiary epilepsy centre and an academic hospital...
January 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/27861775/prevalence-of-juvenile-myoclonic-epilepsy-in-people-30-years-of-age-a-population-based-study-in-norway
#14
Marte Syvertsen, Morten Kristoffer Hellum, Gunnar Hansen, Astrid Edland, Karl Otto Nakken, Kaja Kristine Selmer, Jeanette Koht
OBJECTIVE: Despite juvenile myoclonic epilepsy (JME) being considered one of the most common epilepsies, population-based prevalence studies of JME are lacking. Our aim was to estimate the prevalence of JME in a Norwegian county, using updated diagnostic criteria. METHODS: This was a cross-sectional study, based on reviews of the medical records of all patients with a diagnosis of epilepsy at Drammen Hospital in the period 1999-2013. The study population consisted of 98,152 people <30 years of age...
January 2017: Epilepsia
https://www.readbyqxmd.com/read/27843503/review-cav2-3-r-type-voltage-gated-ca-2-channels-functional-implications-in-convulsive-and-non-convulsive-seizure-activity
#15
Carola Wormuth, Andreas Lundt, Christina Henseler, Ralf Müller, Karl Broich, Anna Papazoglou, Marco Weiergräber
BACKGROUND: Researchers have gained substantial insight into mechanisms of synaptic transmission, hyperexcitability, excitotoxicity and neurodegeneration within the last decades. Voltage-gated Ca(2+) channels are of central relevance in these processes. In particular, they are key elements in the etiopathogenesis of numerous seizure types and epilepsies. Earlier studies predominantly targeted on Cav2.1 P/Q-type and Cav3.2 T-type Ca(2+) channels relevant for absence epileptogenesis. Recent findings bring other channels entities more into focus such as the Cav2...
2016: Open Neurology Journal
https://www.readbyqxmd.com/read/27835783/analysis-of-the-tremor-in-juvenile-myoclonic-epilepsy
#16
Zeynep Aydin-Özemir, Zeliha Matur, Betul Baykan, Başar Bilgic, Pınar Tekturk, Nerses Bebek, Candan Gurses, Hasmet Hanagasi, Ali Emre Oge
PURPOSE: We aimed to investigate juvenile myoclonic epilepsy (JME) patients complaining of tremor unrelated to valproate (VPA) treatment and evaluate if there were differences between JME patients with and without tremor and essential tremor (ET) patients to exclude comorbidity. METHODS: Fifteen JME cases with the complaint of tremor, 14 JME patients without tremor, 14 patients with ET and 14 healthy subjects (HS) were included. Regularity, frequency and amplitude of the tremor and superimposed myoclonia were assessed by accelerometric analysis...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27818795/juvenile-myoclonic-epilepsy-in-rural-western-india-not-yet-a-benign-syndrome
#17
Devangi Desai, Soaham Desai, Trilok Jani
Purpose. To study prevalence of uncontrolled seizures in patients with juvenile myoclonic epilepsy [JME] and assess factors responsible for it. Methods. An ambispective study of all patients with JME attending our epilepsy clinic was done. We recruited all patients with JME evaluated between 1 January 2009 and 31 December 2013 and followed them up to 31 December 2015. Results. Amongst 876 patients with epilepsy, JME was present in 73 patients. Amongst them, 53 [72.6%] had uncontrolled seizures prior to neurology consultation...
2016: Epilepsy Research and Treatment
https://www.readbyqxmd.com/read/27810518/social-cognition-in-juvenile-myoclonic-epilepsy
#18
Filippo S Giorgi, Melania Guida, Lorenzo Caciagli, Cristina Pagni, Chiara Pizzanelli, Enrica Bonanni, Gloria Tognoni, Ubaldo Bonuccelli
OBJECTIVE: Juvenile Myoclonic Epilepsy (JME) is a common genetic generalized epilepsy syndrome. Several studies have detailed cognitive and imaging abnormalities pointing to frontal lobe dysfunction, as well as disadvantageous behavioral traits and poor social outcome, challenging the commonly held view of JME being a benign disorder. Social cognition is the ability to elaborate mental representations of social interactions and to use them correctly in social contexts, and includes Theory of Mind (ToM), which pertains to the attribution of cognitive and affective mental states to self and others and seems to rely on complex fronto-temporal interactions...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27781034/generalized-epilepsy-and-myoclonic-seizures-in-22q11-2-deletion-syndrome
#19
Vincent Strehlow, Marielle E M Swinkels, Rhys H Thomas, Nora Rapps, Steffen Syrbe, Thomas Dorn, Johannes R Lemke
Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27765558/juvenile-myoclonic-epilepsy-may-be-a-disorder-of-cortex-rather-than-thalamus-an-effective-connectivity-analysis
#20
Kang Min Park, Byung In Lee, Kyong Jin Shin, Sam Yeol Ha, JinSe Park, Si Eun Kim, Hyung Chan Kim, Tae Hyung Kim, Chi Woong Mun, Sung Eun Kim
Although juvenile myoclonic epilepsy has been considered as a disorder of thalamo-cortical circuit, it is not determined the causality relationship between thalamus and cortex. The aim of this study was to evaluate whether juvenile myoclonic epilepsy is a disorder of thalamus or cortex. Twenty-nine patients with juvenile myoclonic epilepsy and 20 normal controls were enrolled in this study. In addition, we included 10 patients with childhood absence epilepsy as a disease control group. Using whole-brain T1-weighted MRIs, we analyzed the volumes of the structures, including hippocampus, thalamus, and total cortex, with FreeSurfer 5...
January 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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