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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/28805769/-psychiatry-of-the-future-an-overview-of-foreign-scientists-opinions-of-the-position-of-psychiatry-in-the-modern-world
#1
E D Belousova, N N Zavadenko, A A Kholin, A A Sharkov
This review presents the recently published revised classifications of epilepsies and seizure types developed by the International League Against Epilepsy (ILAE). The Classification of Epilepsies includes several diagnostic levels (steps): 1) from seizure type to epilepsy type (generalized/focal/combined generalized and focal/unknown), 2) diagnosis of epilepsy syndrome 3) etiology (genetic/ structural/ infectious/ metabolic/ immune/unknown). A clinician can use any level of the classification. Operational classification of seizure types is replaced by the previous classification that was grounded on the anatomical basis...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28802899/a-species-dependent-response-to-the-pro-epileptic-drug-pentylentetrazole-in-birds
#2
Faiq Amin, Asim H Dar, Khan Osama, Faezah Khan, Rida Mitha, Arsal Tharwani, Ghulam Haider, Prem Chand, Fazal M Arain
Epilepsy is common disorder that affects over 50 million people worldwide. Birds remain a promising yet largely under-explored model of epilepsy. This study reports the comparison of the response of two species of birds, Australian Parrots (APs) and Sparrows (SPs), to a pro-epileptic drug, Pentylenetetrazole (PTZ). PTZ injections caused myoclonic jerks (MCJs) and tonic clonic seizures (TCSs) in both species. The frequency of MCJs in APs was greater at the dose of 75mg/kg compared to both 50mg/kg and 25mg/kg while it was not significantly different in SPs...
August 9, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28799513/ketogenic-diets-in-the-treatment-of-epilepsy
#3
Maurizio Elia, Joerg Klepper, Baerbel Leiendecker, Hans Hartmann
BACKGROUND: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). They offer an effective alternative for children and adults with drug-resistant epilepsies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28767715/lafora-disease-in-miniature-wirehaired-dachshunds
#4
Lindsay Swain, Gill Key, Anna Tauro, Saija Ahonen, Peixiang Wang, Cameron Ackerley, Berge A Minassian, Clare Rusbridge
Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund. The disease is due to a mutation in the Epm2b gene which results in intracellular accumulation of abnormal glycogen (Lafora bodies). Recent breed-wide testing suggests that the carrier plus affected rate may be as high as 20%. A characteristic feature of the disease is spontaneous and reflex myoclonus; however clinical signs and disease progression are not well described...
2017: PloS One
https://www.readbyqxmd.com/read/28762753/migraine-in-mitochondrial-disorders-prevalence-and-characteristics
#5
Catello Vollono, Guido Primiano, Giacomo Della Marca, Anna Losurdo, Serenella Servidei
Background Migraine is a well-known feature of mitochondrial disorders (MDs). However, no systematic epidemiological data are available in large populations of patients. Aims The aim of this cross-sectional cohort study was to describe the prevalence and migraine characteristics in a large cohort of patients with mitochondrial encephalomyopathies. Methods We studied 93 consecutive patients with characterised MDs referred to our Neuromuscular Unit during a 12-month period. All patients (age range = 16-78 years; 31 men; 58 progressive external ophthalmoplegia [PEO], 12 myoclonic epilepsy with ragged red fibres [MERRF], eight mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes [MELAS], two mitochondrial neurogastrointestinal encephalomyopathy [MNGIE] and 13 other MDs) underwent a structured diagnostic headache interview using an operational diagnostic tool following the IHS criteria...
January 1, 2017: Cephalalgia: An International Journal of Headache
https://www.readbyqxmd.com/read/28758580/chromosomal-micro-aberration-in-a-saudi-family-with-juvenile-myoclonic-epilepsy
#6
Muhammad Imran Naseer, Adeel G Chaudhary, Sameera Sogaty, Mahmood Rasool, Sajjad Karim, Hans-Juergen Schulten, Fehmida Bibi, Peter Natesan Pushparaj, Hussein A Algahtani, Mohammad H Al-Qahtani
Epilepsy is genetically complex neurological disorder affecting millions of people of the world. Juvenile myoclonic epilepsy (JME) is a most common epilepsy syndromes that starts in the teen age group commonly between ages 12 and 18, and lasts into adulthood. Out of 14 people with epilepsy one suffer with JME. Myoclonic seizures and muscle twitching or uncontrolled jerking are the most common type of seizure in the people suffering with JME. To observe the novel CNVs involved in JME we investigated a Saudi family with nine siblings with one male and one female affected members...
July 31, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28738275/early-childhood-myoclonic-epilepsy-an-independent-genetic-generalized-epilepsy-with-myoclonic-seizures-as-the-main-seizure-type
#7
Zhixian Yang, Jiao Xue, Hui Li, Ping Qian, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang
OBJECTIVE: To elucidate the characteristics of the myoclonic seizures alone, or predominant myoclonus combined with generalized tonic-clonic seizures (GTCS) and/or absences, in early childhood, and discuss its classification. METHODS: Forty-two children were retrospectively recruited between January 2006 and June 2015. RESULTS: The mean age of seizure onset was 40.5months. They were divided into 4 groups: myoclonic seizures alone; predominant myoclonus combined with GTCS; predominant myoclonus combined with absences; predominant myoclonus combined with both GTCS and absences...
July 6, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28717435/psoriasis-bulbar-involvement-and-diarrhea-in-late-myoclonic-epilepsy-with-ragged-red-fibers-syndrome-due-to-the-m-8344a-g-trna-lys-mutation
#8
Josef Finsterer, Gabor Geza Kovacs
No abstract text is available yet for this article.
January 5, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/28713279/antiepileptogenic-and-neuroprotective-effects-of-pergularia-daemia-on-pilocarpine-model-of-epilepsy
#9
Antoine K Kandeda, Germain S Taiwe, Fleur C O Moto, Gwladys T Ngoupaye, Gisele C N Nkantchoua, Jacqueline S K Njapdounke, Jean P O Omam, Simon Pale, Nadege Kouemou, Elisabeth Ngo Bum
In this study, we investigated antiepileptogenic and neuroprotective effects of the aqueous extract of Pergularia daemia roots (PDR) using in vivo and in vitro experimental models. In in vivo studies, status epilepticus caused by pilocarpine injection triggers epileptogenesis which evolves during about 1-2 weeks. After 2 h of status epilepticus, mice were treated during the epileptogenesis period for 7 days with sodium valproate and vitamin C (standards which demonstrated to alter epileptogenesis), or Pergularia daemia...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28712486/myoclonic-epilepsy-in-infancy-with-preceding-or-concurrent-afebrile-generalized-tonic-clonic-seizures-in-chinese-children
#10
Zhixian Yang, Hui Li, Jiao Xue, Ping Qian, Xiaoyan Liu, Yuehua Zhang
OBJECTIVE: To investigate the general characteristics and the category of myoclonic epilepsy in infancy (MEI) with or without afebrile generalized tonic-clonic seizures (GTCS). METHODS: Thirty-three children were retrospectively recruited from approximately 42,814 video-electroencephalogram (VEEG) recordings monitored in our department over last nearly 10years. Myoclonic seizures (MS) must be identified by VEEG in all patients. The clinical, EEG features and outcome were analyzed among these patients...
July 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28706399/comparative-effect-of-divided-doses-of-adult-solid-and-liquid-oral-formulations-of-antiepileptic-drugs-in-the-management-of-pediatric-epilepsy
#11
Ravi Prasad Nidanapu, Bascarane Tamijarassy, Subramanian Mahadevan, Batmanabane Gitanjali
OBJECTIVE: To compare the differences in the efficacy and safety of the commonly prescribed AEDs in the management of epilepsy in children when using divided doses of adult solid oral formulations (DDSF) with the liquid oral formulations (LFs). MATERIALS AND METHODS: Patients who had one or more seizures per month and prescribed with DDSF were recruited. Initially the patients were continued on DDSF for 4 months following which they were switched over to LF for the subsequent 4 months...
April 2017: Journal of Pharmacology & Pharmacotherapeutics
https://www.readbyqxmd.com/read/28704743/sleep-abnormalities-in-juvenile-myoclonic-epilepsy-a-sleep-questionnaire-and-polysomnography-based-study
#12
Sujata Roshan, Vinod Puri, Neera Chaudhry, Anu Gupta, Sumit Kumar Rabi
PURPOSE: To evaluate the quality of sleep, its architecture and occurrence of epileptiform discharges with their distribution across various stages of sleep in patients of Juvenile myoclonic epilepsy (JME), both drug naïve as well as those already on treatment. METHODS: 99 patients of JME [36 drug naïve, 63 on antiepileptic drug(s) (AED)], and 30 healthy controls were recruited. Sleep quality and daytime sleepiness were evaluated with Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS), respectively...
June 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28697467/smoking-prevalence-and-seizure-control-in-chinese-males-with-epilepsy
#13
Hui Gao, Josemir W Sander, Xudong Du, Jiani Chen, Cairong Zhu, Dong Zhou
Smoking has a negative effect on most diseases, yet it is under-investigated in people with epilepsy; thus its role is not clear in the general population with epilepsy. We performed a retrospective pilot study on males with epilepsy to determine the smoking rate and its relationship with seizure control using univariate analysis to calculate odds ratios (ORs) and also used a multi-variate logistic regression model. The smoking rate in our sample of 278 individuals was 25.5%, which is lower than the general Chinese population smoking rate among males of 52...
July 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28692462/utility-of-skin-biopsy-in-a-case-of-progressive-myoclonic-epilepsy
#14
Travis Frantz, Erica Fortson, Lindsay C Strowd
No abstract text is available yet for this article.
May 18, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28688853/gpr37l1-modulates-seizure-susceptibility-evidence-from-mouse-studies-and-analyses-of-a-human-gpr37l1-variant
#15
Michelle M Giddens, Jennifer C Wong, Jason P Schroeder, Emily G Farrow, Brilee M Smith, Sharon Owino, Sarah E Soden, Rebecca C Meyer, Carol Saunders, J B LePichon, David Weinshenker, Andrew Escayg, Randy A Hall
Progressive myoclonus epilepsies (PMEs) are disorders characterized by myoclonic and generalized seizures with progressive neurological deterioration. While several genetic causes for PMEs have been identified, the underlying causes remain unknown for a substantial portion of cases. Here we describe several affected individuals from a large, consanguineous family presenting with a novel PME in which symptoms begin in adolescence and result in death by early adulthood. Whole exome analyses revealed that affected individuals have a homozygous variant in GPR37L1 (c...
July 6, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#16
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28686997/management-of-epilepsy-in-merrf-syndrome
#17
REVIEW
Josef Finsterer, Sinda Zarrouk-Mahjoub
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported...
June 24, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28673533/successful-corpus-callosotomy-for-doose-syndrome
#18
Sotaro Kanai, Tohru Okanishi, Mitsuyo Nishimura, Kentaro Iijima, Takuya Yokota, Tomohiro Yamazoe, Ayataka Fujimoto, Hideo Enoki, Takamichi Yamamoto
Doose syndrome (epilepsy with myoclonic-atonic seizures) is an epilepsy syndrome with an incidence of approximately 1-2% of childhood-onset epilepsies. Although this syndrome is associated with multiple types of generalized seizures, the diagnosis is based on the presence of myoclonic-atonic seizures. Eighteen percent of patients have refractory seizures and intellectual disabilities. There have, however, been a few reports on the efficacy of surgical treatment for Doose syndrome. We describe a case of Doose syndrome in a 10-year-old boy...
June 30, 2017: Brain & Development
https://www.readbyqxmd.com/read/28664031/large-scale-structural-alteration-of-brain-in-epileptic-children-with-scn1a-mutation
#19
Yun-Jeong Lee, Mi-Sun Yum, Min-Jee Kim, Woo-Hyun Shim, Hee Mang Yoon, Il Han Yoo, Jiwon Lee, Byung Chan Lim, Ki Joong Kim, Tae-Sung Ko
OBJECTIVE: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim of this study was to investigate differences in brain morphometry in epileptic children with SCN1A mutation compared to healthy control subjects...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28663785/case-report-novel-mutations-in-tbc1d24-are-associated-with-autosomal-dominant-tonic-clonic-and-myoclonic-epilepsy-and-recessive-parkinsonism-psychosis-and-intellectual-disability
#20
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M Claasen, Sampathkumar Rangasamy, Matthew J Huentelman, David W Craig, Philippe M Campeau, Vinodh Narayanan, Isabelle Schrauwen
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy, and a 37-year-old Caucasian female with a severe neurological phenotype including epilepsy, Parkinsonism, psychosis, visual and auditory hallucinations, gait ataxia and intellectual disability. Whole exome sequencing revealed two missense mutations in the TBC1D24 gene segregating within this family (c...
2017: F1000Research
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