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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/28181916/4-phenylbutyric-acid-and-metformin-decrease-sensitivity-to-pentylenetetrazol-induced-seizures-in-a-malin-knockout-model-of-lafora-disease
#1
Gentzane Sánchez-Elexpuru, José M Serratosa, Pascual Sanz, Marina P Sánchez
Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans (Lafora bodies) and neurological complications that resemble those observed in patients with LD. In the absence of laforin or malin expression, mice also show different degrees of hyperexcitability, as reflected by an enhanced response to the convulsant drug pentylenetetrazol (PTZ)...
February 8, 2017: Neuroreport
https://www.readbyqxmd.com/read/28173825/myoclonic-seizure-prior-to-diagnosis-of-chronic-toxic-encephalopathy-a-case-report
#2
Wim L C Van Hooste
BACKGROUND: "Thinner" is a widely used industrial mixture of organic solvents. Exposure to organic solvents is usually not considered to be a possible cause of epilepsy, despite descriptions of toxic effects on the central nervous system. There are only a few reports about a possible epileptogenic effect of organic solvents exposure. We report a case of myoclonic seizure at the workplace that shows a remarkable coincidence between exposure to a thinner mixture and the occurrence of an epileptic seizure...
February 7, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28168129/a-quandary-of-cuprum-wilson-s-disease-disguising-as-progressive-myoclonic-epilepsy
#3
Monika Sachan, Suman Kushwaha, Shah Faisal Ahmad Tarfarosh, Vineet Banga, Ashutosh Gupta
Although metals are indispensable for the production of articles in our daily usage, the deposition of these metals in human tissue is known to cause disease. However, it is not always the ingestion of abnormal amounts of lead, iron, or copper that makes our tissues morbid; our hereditary and metabolic issues are to be blamed as well. Wilson's disease is one such hereditary disease that creates chaos in tissues, usually the brain and liver, via deposition of abnormal amounts of copper in them. While Wilson's disease almost seems to bring a picture of a young patient with dystonia and other extrapyramidal symptoms in our imagination, seizures are very uncommon in this disorder...
January 1, 2017: Curēus
https://www.readbyqxmd.com/read/28157601/prognostic-factors-in-patients-with-refractory-idiopathic-generalized-epilepsy
#4
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...
January 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28145425/loss-of-function-of-kcnc1-is-associated-with-intellectual-disability-without-seizures
#5
Karine Poirier, Géraldine Viot, Laura Lombardi, Clémence Jauny, Pierre Billuart, Thierry Bienvenu
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family with intellectual disability and dysmorphic features. The three affected individuals carry a c.1015C>T (p.(Arg339*)) nonsense variant in KCNC1 gene. As previously observed in the mutant mouse carrying a disrupted KCNC1 gene, these findings reveal that individuals with a KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy...
February 1, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28133863/genetics-and-genotype-phenotype-correlations-in-early-onset-epileptic-encephalopathy-with-burst-suppression
#6
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H Libenson, Kristina Julich, Tobias Loddenkemper, Eric D Marsh, Devorah Segal, Susan Koh, Michael S Salman, Alex R Paciorkowski, Edward Yang, Ann M Bergin, Beth Rosen Sheidley, Annapurna Poduri
OBJECTIVE: We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype-phenotype correlations. METHODS: We enrolled 33 patients with a referral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortical development. We performed detailed phenotypic assessment including seizure presentation, EEG, and MRI. We confirmed burst suppression in 28 out of 33 patients...
January 30, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28131202/clinical-and-genetic-studies-in-patients-with-lafora-disease-from-pakistan
#7
Arsalan Ahmad, Rubina Dad, Muhammad Ikram Ullah, Tahir Ahmed Baig, Imran N Ahmad, Abdul Nasir, Christian A Hübner, Muhammad Jawad Hassan
Lafora disease (LD) is progressive myoclonic epilepsy with late childhood- to teenage-onset. Mutations in two genes, EPM2A and NHLRC1, are responsible for this autosomal recessive disease in many patients Worldwide. In present study, we reported two unrelated consanguineous Pakistani families with Lafora disease (Families A and B). Affected individuals in both families presented with generalized tonic clonic seizures, intellectual disability, ataxia and cognitive decline. Diagnosis of Lafora disease was made on histo-pathological analysis of the skin biopsy, found positive for lafora bodies in periodic acid schiff stain and frequent generalized epileptiform discharges on electroencephalogram (EEG)...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28126647/movement-activated-cortical-myoclonus-in-dravet-syndrome
#8
Laura Canafoglia, Francesca Ragona, Ferruccio Panzica, Elena Piazza, Elena Freri, Simona Binelli, Vidmer Scaioli, Giuliano Avanzini, Tiziana Granata, Silvana Franceschetti
PURPOSE: we characterized multifocal myoclonus in Dravet syndrome (DS) that was never systematically typified before. METHODS: we studied EEG-EMG recordings of 19 consecutive patients, aged 2-29 years, with DS associated with SCN1A gene mutations to detect and evaluate myoclonus based on the spectrum of EMG activity on antagonist muscle pairs and cortico-muscular coherence (CMC). RESULTS: multifocal action myoclonus was detected in all patients corresponding to brief EMG bursts, which occurred synchronously on antagonist muscles at a frequency peaking in beta band...
January 19, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28079431/vagus-nerve-stimulation-in-intractable-epilepsy-associated-with-scn1a-gene-abnormalities
#9
Stephen P Fulton, Kate Van Poppel, Amy L McGregor, Basanagoud Mudigoudar, James W Wheless
Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy-Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28078877/congenital-muscular-dystrophy-and-epilepsy-a-prospective-case-series-of-pediatric-patients
#10
G Vitaliti, P Pavone, C Romano, M Barbagallo, M Vecchio, C Ledda, R Lubrano, R Falsaperla
Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD...
October 2016: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/28074997/-classification-of-idiopathic-generalised-epilepsies-in-patients-over-16-years-of-age
#11
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/28072960/-novel-compound-heterozygous-tbc1d24-mutations-in-a-boy-with-infantile-focal-myoclonic-epilepsy-and-literature-review
#12
W H Li, S Z Zhou, L M Zhang, X H Wang, Y J Zhang, B B Wu, H J Wang, H W Yang
Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clinical data of a patient with novel TBC1D24 compound heterozygous mutations from Children's Hospital of Fudan University were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and Pubmed (up to April 2016) by using search terms "TBC1D24" "epilepsy" ...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28067060/update-on-pharmacotherapy-of-myoclonic-seizures
#13
Pasquale Striano, Vincenzo Belcastro
Myoclonic seizures are brief, involuntary muscular jerks arising from the central nervous system that can occur in different epilepsy syndromes, including idiopathic generalized epilepsies or the most severe group of epileptic encephalopathies. Valproate is commonly the first choice alone or in combination with some benzodiazepines or levetiracetam. However, more treatment options exist today as there is emerging evidence to support the efficacy of some newer antiepileptic drugs. In addition, of major importance remains avoidance of medications (e...
February 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28060866/patterns-of-gray-matter-abnormalities-in-idiopathic-generalized-epilepsy-a-meta-analysis-of-voxel-based-morphology-studies
#14
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/28053010/mutations-in-gabrb3-from-febrile-seizures-to-epileptic-encephalopathies
#15
Rikke S Møller, Thomas V Wuttke, Ingo Helbig, Carla Marini, Katrine M Johannesen, Eva H Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence L Francois, Gaetan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Marielle Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T Myers, Line H G Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, Konstantin Mukhin, Hans Holthausen, Koen L van Gassen, Hans A Dahl, Niels Tommerup, Heather C Mefford, Guido Rubboli, Renzo Guerrini, Johannes R Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic
OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing of GABRB3 in 416 patients with a range of epileptic encephalopathies and childhood-onset epilepsies and recruited additional patients with epilepsy with GABRB3 mutations from other research and diagnostic programs...
January 31, 2017: Neurology
https://www.readbyqxmd.com/read/28043061/fars2-mutation-and-epilepsy-possible-link-with-early-onset-epileptic-encephalopathy
#16
Jae So Cho, Seung Hyo Kim, Ha Young Kim, Taesu Chung, Dongsup Kim, Sesong Jang, Seung Bok Lee, Seung Keun Yoo, Jongyeon Shin, Jong-Il Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Byung Chan Lim
Early-onset epileptic encephalopathy (EOEE) consists of a heterogeneous group of epilepsy phenotypes. Recent technological advances in molecular biology have also rapidly expanded the genotype of EOEE. Genes involved in diverse molecular pathways, including ion channels, synaptic structure, transcription regulation, and cellular growth, have been implicated in EOEE. Mitochondrial aminoacyl tRNA synthetase, which plays a key role in mitochondrial protein synthesis by attaching 20 different amino acids to the tRNA tail, has been recently linked with the epilepsy phenotype...
December 2, 2016: Epilepsy Research
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
#17
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/28018465/ictal-sinus-pause-and-myoclonic-seizure-in-a-child
#18
Hye Ryun Kim, Gun-Ha Kim, So-Hee Eun, Baik-Lin Eun, Jung Hye Byeon
Ictal tachycardia and bradycardia are common arrhythmias; however, ictal sinus pause and asystole are rare. Ictal arrhythmia is mostly reported in adults with temporal lobe epilepsy. Recently, ictal arrhythmia was recognized as a major warning sign of sudden unexpected death in epilepsy. We present an interesting case of a child with ictal sinus pause and asystole. A 27-month-old girl was hospitalized due to 5 episodes of convulsions during the past 2 days. Results of routine electroencephalography (EEG) were normal, but she experienced brief generalized tonic seizure for 3 days...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018440/glucose-transport-1-deficiency-presenting-as-infantile-spasms-with-a-mutation-identified-in-exon-9-of-slc2a1
#19
Hyun Hee Lee, Yun Jung Hur
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28012415/comparing-sleep-profiles-between-patients-with-juvenile-myoclonic-epilepsy-and-symptomatic-partial-epilepsy-sleep-questionnaire-based-study
#20
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
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