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Myoclonic epilepsy

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https://www.readbyqxmd.com/read/29778029/late-onset-childhood-neuronal-ceroid-lipofuscinosis-early-clinical-and-electroencephalographic-markers
#1
Lucas Beltrán, Gabriela Reyes Valenzuela, Mariana Loos, Rodrigo Vargas, Rafael Lizama, Pablo Spinsanti, Roberto Caraballo
PURPOSE: The objective of the study was to describe the initial clinical and electroencephalographic findings in children with late-infantile neuronal ceroid lipofuscinosis (LINCL). METHOD: The clinical charts of 35 patients seen between 1990 and 2016 were reviewed. The patients were divided into two groups: Group 1 (G1) consisting of 12 patients with NCL type 2 (CLN2) disease confirmed by enzymatic activity in dried blood spots on filter paper and/or genetic studies, and Group 2 (G2) consisting of 23 patients with a diagnosis of LINCL based on pathology studies by muscle biopsy...
May 15, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#2
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29740950/the-first-reported-case-of-an-inherited-pathogenic-chd2-variant-in-a-clinically-affected-mother-and-daughter
#3
Andrea Klunder Petersen, Haley Streff, Mari Tokita, Bret L Bostwick
Pathogenic variants in CHD2 (chromodomain helicase DNA-binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of phenotypic variability, ranging from mild intellectual disability to atonic-myoclonic epilepsy. However, given the paucity of reported cases the extent of this phenotypic spectrum is currently unknown. Furthermore, all confirmed pathogenic CHD2 variants reported to date have been de novo, preventing the study of intrafamilial phenotypic heterogeneity and creating ambiguity regarding recurrence risk, penetrance, and expressivity...
May 9, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29736355/juvenile-myoclonic-epilepsy-presenting-with-neurocognitive-impairment-a-case-report
#4
Sarfraz Mahesar, Hira F Akbar, Husnain Abid, Rabia Sana
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. A history of morning clumsiness supported by typical electroencephalography (EEG) findings, together with a normal clinical examination all point towards a diagnosis of JME. We present the case of a nine-year-old girl who presented with cognitive dysfunction in addition to myoclonic jerks...
March 5, 2018: Curēus
https://www.readbyqxmd.com/read/29736136/a-case-of-dissociative-seizures-presented-like-myoclonic-epilepsy
#5
Balaswamy Reddy, Soumitra DAS, Mustafa Ali, Srinivas Guruprasad
Psychogenic seizures are often underdiagnosed and epilepsy is very often over-treated which leads to multiple financial, social and stigma related difficulties. The myoclonic seizure itself is a rare phenomenon and when functional movement disorder presents like myoclonus then it's extremely difficult to pinpoint the exact cause. Here, we are presenting a case who was misdiagnosed as having a myoclonic seizure disorder and treated in multiple places without any improvement which ultimately turned out to be functional movement disorder of a rare variety...
April 25, 2018: Shanghai Archives of Psychiatry
https://www.readbyqxmd.com/read/29729533/predictive-factors-of-higher-drug-load-for-seizure-freedom-in-idiopathic-generalized-epilepsy-comparison-between-juvenile-myoclonic-epilepsy-and-other-types
#6
Yu Kitazawa, Kazutaka Jin, Yosuke Kakisaka, Mayu Fujikawa, Fumiaki Tanaka, Nobukazu Nakasato
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...
April 23, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29729532/how-do-we-diagnose-and-treat-epilepsy-with-myoclonic-atonic-seizures-doose-syndrome-results-of-the-pediatric-epilepsy-research-consortium-survey
#7
Katherine Nickels, Ronald Thibert, Stephanie Rau, Scott Demarest, Elaine Wirrell, Eric H Kossoff, Charuta Joshi, Srishti Nangia, Renee Shellhaas
OBJECTIVE: To obtain and assess opinions on EMAS diagnostic criteria, recommended investigations, and therapeutic options, from a large group of physicians who care for children with EMAS. METHODS: The EMAS focus group of PERC created a survey to assess the opinions of pediatric neurologists who care for children with EMAS regarding diagnosis and treatment of this condition, which was sent to members of PERC, AES, and CNS. A Likert scale was used to assess the respondents' opinions on the importance of diagnostic and exclusion criteria (five point scale), investigations (four point scale), and treatment (six point scale) of EMAS...
April 25, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29727740/tap-seizures-in-infancy-a-critical-review
#8
REVIEW
Emanuela C Turco, Anna Andreolli, Francesco Pisani
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. Our aim is to increase knowledge about this specific disorder in order to help pediatricians avoid extensive investigations when making their diagnosis and reassure parents regarding absence of long-term complications...
April 23, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29708173/uncertainties-from-a-worldwide-survey-on-antiepileptic-drug-withdrawal-after-seizure-remission
#9
Luca Bartolini, Shahram Majidi, Mohamad Z Koubeissi
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...
April 2018: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29692406/structural-basis-for-the-activation-of-acid-ceramidase
#10
Ahmad Gebai, Alexei Gorelik, Zixian Li, Katalin Illes, Bhushan Nagar
Acid ceramidase (aCDase, ASAH1) hydrolyzes lysosomal membrane ceramide into sphingosine, the backbone of all sphingolipids, to regulate many cellular processes. Abnormal function of aCDase leads to Farber disease, spinal muscular atrophy with progressive myoclonic epilepsy, and is associated with Alzheimer's, diabetes, and cancer. Here, we present crystal structures of mammalian aCDases in both proenzyme and autocleaved forms. In the proenzyme, the catalytic center is buried and protected from solvent. Autocleavage triggers a conformational change exposing a hydrophobic channel leading to the active site...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29691274/negative-myoclonus-secondary-to-paroxetine-intake
#11
Pedro Correia, Joana Afonso Ribeiro, Conceição Bento, Francisco Sales
Outside the context of overdose and serotonin syndrome, seizures and myoclonic movements attributed to selective serotonin reuptake inhibitors (SSRIs) are rare and poorly documented. We present a 77-year-old man, with no history of epilepsy, presenting in the emergency department with whole body jerks since that morning. Two days earlier, due to a prescription mistake, he was started on paroxetine 20 mg instead of his usual fluoxetine 20 mg. The patient's electroencephalogram (EEG), performed in the emergency department, revealed a bilateral synchronous parieto-occipital fast spike activity pattern, which correlated consistently with negative myoclonus...
April 24, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29681927/altered-structural-and-functional-connectivity-of-juvenile-myoclonic-epilepsy-an-fmri-study
#12
Chengqing Zhong, Rong Liu, Cheng Luo, Sisi Jiang, Li Dong, Rui Peng, Fuqiang Guo, Pu Wang
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). Then, the observed structural and FCs were associated with the clinical manifestations...
2018: Neural Plasticity
https://www.readbyqxmd.com/read/29674629/genetic-idiopathic-epilepsy-with-photosensitive-seizures-includes-features-of-both-focal-and-generalized-seizures
#13
Jiao Xue, Pan Gong, Haipo Yang, Xiaoyan Liu, Yuwu Jiang, Yuehua Zhang, Zhixian Yang
Clinically, some patients having genetic (idiopathic) epilepsy with photosensitive seizures were difficult to be diagnosed. We aimed to discuss whether the genetic (idiopathic) epilepsy with photosensitive seizures is a focal entity, a generalized entity or a continuum. Twenty-two patients with idiopathic epilepsies and photoconvulsive response (PCR) were retrospectively recruited. In the medical records, the seizure types included "generalized tonic-clonic seizures (GTCS)" in 15, "partial secondarily GTCS (PGTCS)" in 3, partial seizures (PS) in 3, myoclonic seizures in 2, eyelid myoclonus in one, and only febrile seizures in one...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29663568/abnormal-function-of-the-uba5-protein-in-a-case-of-early-developmental-and-epileptic-encephalopathy-with-suppression-burst
#14
Cécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, Jens Daniel, Florence Riccardi, Pierre Cacciagli, Majdi Nagara, Tiffany Busa, Eva Liebau, Laurent Villard
Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his parents. In the proband, we identified a homozygous missense variant in the ubiquitin-like modifier activating enzyme 5 (UBA5) gene, encoding a protein involved in post-translational modifications. Functional analysis of the UBA5 variant protein reveals that it is almost completely unable to perform its trans-thiolation activity...
April 16, 2018: Human Mutation
https://www.readbyqxmd.com/read/29663531/identification-of-variants-in-the-mitochondrial-lysine-trna-mt-tk-gene-in-myoclonic-epilepsy-pathogenicity-evaluation-and-structural-characterization-by-in-silico-approach
#15
Muhammad S Nadeem, Habib Ahmad, Kaleemuddin Mohammed, Khushi Muhammad, Inam Ullah, Othman A S Baothman, Nasir Ali, Firoz Anwar, Mazin A Zamzami, Abdul Rauf Shakoori
Variations in mitochondrial genes have an established link with myoclonic epilepsy. In the present study we evaluated the nucleotide sequence of MT-TK gene of 52 individuals from 12 unrelated families and reported three variations in 2 of the 13 epileptic patients. The DNA sequences coding for MT-TK gene were sequenced and mutations were detected in all participants. The mutations were further analyzed by the in silico analysis and their structural and pathogenic effects were determined. All the investigated patients had symptoms of myoclonus, 61...
April 16, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29642764/distinct-effects-of-resveratrol-on-seizures-and-hyperexcitability-induced-by-nmda-and-4-aminopyridine
#16
Ya-Jean Wang, Chung-Pin Hsieh, Ming-Huan Chan, Tzu-Yi Chan, Linyi Chen, Hwei-Hisen Chen
OBJECTIVES: The antiepileptic activity of resveratrol has been revealed in various experimental models of epilepsy. The present study evaluated the effects of resveratrol on the seizures and hyperexcitable neuronal activity associated with activation of N-methyl-d-aspartic acid (NMDA) receptor and inhibition of voltage-gated potassium channels. METHODS: The effects of resveratrol on seizure thresholds, excitatory field potentials (EFPs) and action potentials induced by NMDA and 4-aminopyridine (4-AP) were monitored in mice, the mouse cortical slices and rat cortical neurons, respectively...
April 12, 2018: Nutritional Neuroscience
https://www.readbyqxmd.com/read/29620008/de-novo-late-onset-absence-status-epilepticus-or-late-onset-idiopathic-generalized-epilepsy-a-case-report-and-systematic-review-of-the-literature
#17
Francesco Brigo, Veronica Tavernelli, Raffaele Nardone, Eugen Trinka
Idiopathic (genetic) generalized epilepsies (IGEs) are age-related epileptic syndromes with typical age onset in childhood or adolescence. We report a patient with de novo late-onset absence status epilepticus (ASE) occurring at the age of 64 years, with clinical and EEG features suggestive of late-onset IGE. We also discuss the relationship between de novo late-onset ASE and late-onset IGE, and provide a comprehensive and critical review of the available literature on late-onset (i.e. onset ≥60 years) IGE...
April 5, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29614577/-advances-research-on-progressive-myoclonic-epilepsy
#18
J Zhang, Y H Zhang
No abstract text is available yet for this article.
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29610055/language-function-in-childhood-idiopathic-epilepsy-syndromes
#19
D C Jackson, J E Jones, D A Hsu, C E Stafstrom, J J Lin, D Almane, M A Koehn, M Seidenberg, B P Hermann
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...
March 30, 2018: Brain and Language
https://www.readbyqxmd.com/read/29610033/ketogenic-diet-therapy-in-infants-efficacy-and-tolerability
#20
Elaine Wirrell, Susan Eckert, Lily Wong-Kisiel, Eric Payne, Katherine Nickels
PURPOSE: This study evaluated tolerability and efficacy of the ketogenic diet in infants less than 12 months of age. METHODS: Infants <12 months of age, commencing the ketogenic diet between September 2007 and July 2016 were identified. Records were reviewed for epilepsy details, diet initiation details, efficacy and tolerability. RESULTS: Twenty-seven infants commenced the ketogenic diet (56% male, median age seven months). Median age at seizure onset was 1...
January 31, 2018: Pediatric Neurology
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