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Myoclonic epilepsy

Laith N Al-Eitan, Islam M Al-Dalalah, Afrah K Elshammari, Wael H Khreisat, Ayah Y Almasri
This study aims to investigate the effects of the three potassium channel genes KCNA1 , KCNA2 , and KCNV2 on increased susceptibility to epilepsy as well as on responsiveness to antiepileptic drugs (AEDs). The pharmacogenetic and case-control cohort ( n = 595) consisted of 296 epileptic patients and 299 healthy individuals. Epileptic patients were recruited from the Pediatric Neurology clinic at the Queen Rania Al Abdullah Hospital (QRAH) in Amman, Jordan. A custom platform array search for genetic association in Jordanian-Arab epileptic patients was undertaken...
November 14, 2018: Journal of Personalized Medicine
Sidratul Moontaha, Andreas Galka, Thomas Meurer, Michael Siniatchkin
This paper proposes an objective methodology for the analysis of epileptic seizure count time series by developing a non-linear state space model. An iterative extended Kalman filter (IEKF) is employed for the estimation of the states of the non-linear state space model. In order to improve convergence of the IEKF, the recently proposed Levenberg-Marquardt variant of the IEKF is explored. As external inputs time-dependent dosages of several simultaneously administered anticonvulsants are included. The aim of the analysis is to decide whether each anticonvulsant decreases or increases the number of seizures per day...
July 2018: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
F Carré, R Hervochon, C Foirest, F Tankéré
INTRODUCTION: Patients with MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) usually present with encephalomyopathy. However, progressive, recurrent cervicothoracic lipomatosis may be rarely observed. CASE REPORT: The authors report 4 cases of MERRF syndrome associated with lipomatosis. In 3 patients, the diagnosis of MERRF syndrome was established on the basis of the clinical features of the lipomas and clinical interview revealing a personal or family history of lipomas and myopathy...
November 5, 2018: European Annals of Otorhinolaryngology, Head and Neck Diseases
Belén Abarrategui, Beatriz Parejo-Carbonell, Maria Eugenia García García, Daniela Di Capua, Irene García-Morales
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)...
November 5, 2018: Epilepsy & Behavior: E&B
Vijay B Rajput, Muthukumarasamy Karthikeyan, Sureshkumar Ramasamy
Acid ceramidase (N-acylsphingosine deacylase EC; AC) catalyzes the hydrolysis of ceramide into sphingosine (SPH) and free fatty acid. Zebrafish acid ceramidase (AC) has 60% homology with the human AC). Mutations in the human AC gene asah1 are known to cause Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Zebrafish AC was overexpressed in Pichia pastoris by inserting asah1b gene into the genome. The majority of the overexpressed enzyme was secreted into the culture medium and purified to apparent homogeneity by stepwise chromatography...
November 3, 2018: International Journal of Biological Macromolecules
Johan Arends, Roland D Thijs, Thea Gutter, Constantin Ungureanu, Pierre Cluitmans, Johannes Van Dijk, Judith van Andel, Francis Tan, Al de Weerd, Ben Vledder, Wytske Hofstra, Richard Lazeron, Ghislaine van Thiel, Kit C B Roes, Frans Leijten
OBJECTIVE: To develop and prospectively evaluate a method of epileptic seizure detection combining heart rate and movement. METHODS: In this multicenter, in-home, prospective, video-controlled cohort study, nocturnal seizures were detected by heart rate (photoplethysmography) or movement (3-D accelerometry) in persons with epilepsy and intellectual disability. Participants with >1 monthly major seizure wore a bracelet (Nightwatch) on the upper arm at night for 2 to 3 months...
October 24, 2018: Neurology
Xing Xing Lei, Qing Liu, Qiang Lu, Yan Huang, Xiang Qin Zhou, He Yang Sun, Li Wen Wu, Li Ying Cui, Xue Zhang
OBJECTIVE: To investigate whether abnormal TTTTA and TTTCA repeat expansions in introns of SAMD12, TNRC6A and RAPGEF2 are involved in the pathogenesis of familial cortical myoclonic tremor with epilepsy (FCMTE). METHODS: Five families diagnosed with FCMTE were included in the current genetic analysis. Whole-exome sequencing was performed in selected patients of each families. TTTTA and TTTCA expansions were examined by repeat-primed polymerase chain reaction. Clinical features of FCMTE is elicited as defined by common genetic mechanism of 14 patients...
October 23, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Praveen Barrodia, Chinmoy Patra, Rajeeb K Swain
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. Here, we have identified EF-hand domain containing 2 (Efhc2) as a novel component of genetic programme regulating nephron segmentation in zebrafish...
2018: Cell & Bioscience
Xiaoyan Jia, Shuai Ma, Sisi Jiang, Honbin Sun, Debo Dong, Xuebin Chang, Qiong Zhu, Dezhong Yao, Liang Yu, Cheng Luo
Purpose: 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)]. Methods: 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...
2018: Frontiers in Neurology
Li-Jun Su, Yu-Liang Wang, Tao Han, Shan Qiao, Ke-Jun Zang, Huai-Kuan Wu, Yong-Xin Su, Ling-Ling Liu, Xue-Wu Liu
Background: Treatment of myoclonic seizures in myoclonic epilepsy with ragged-red fibers (MERRFs) has been empirical and ineffective. Guideline on this disease is not available. Additional trials must be conducted to find more suitable treatments for it. In this study, the antimyoclonic effects of monotherapies, including levetiracetam (LEV), clonazepam (CZP), valproic acid (VPA), and topiramate (TPM) compared to combination therapy group with LEV and CZP on MERRF, were evaluated to find a more advantageous approach on the treatment of myoclonic seizures...
October 20, 2018: Chinese Medical Journal
Raffaele Nardone, Francesco Brigo, Viviana Versace, Luca Sebastianelli, Monica Christova, Stefan Golaszewski, Leopold Saltuari, Eugen Trinka
BACKGROUND: Several studies have applied electrophysiological techniques to physiologically characterize corticobasal degeneration (CBD). METHODS: We performed a systematic literature search of these studies and reviewed all 25 identified articles. RESULTS: Conventional electroencephalography (EEG) is usually normal even in the late stages of disease. Quantitative EEG (qEEG) with spectral analysis revealed mainly lateralized abnormalities, such as an increase of slow wave activity and occasionally the occurrence of sharp waves, and a significant increase of coherence between left parietal-right premotor areas...
October 13, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Kyle A Metz, Xinchen Teng, Isabelle Coppens, Heather M Lamb, Bart E Wagner, Jill A Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E Meadow, Tim Sen Wang, Edda D Haberlandt, Glenn W Anderson, Esther Leshinsky-Silver, Weimin Bi, Thomas C Markello, Marsha Pratt, Nawal Makhseed, Adolfo Garnica, Noelle R Danylchuk, Thomas A Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Tsui Ong, Santosh R Mordekar, Michael J Parker, Daniel Crooks, Pankaj B Agrawal, Gerard T Berry, Tobias Loddenkemper, Yaping Yang, Gustavo H B Maegawa, Abdel Aouacheria, Janet G Markle, James A Wohlschlegel, Adam L Hartman, J Marie Hardwick
OBJECTIVE: Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), KCTD protein family members lack predicted channel domains. We sought to translate insight gained from yeast studies to uncover disease mechanisms associated with deficiencies in KCTD7 of unknown function. METHODS: Novel KCTD7 variants in new and published patients were assessed for disease causality using genetic analyses, cell-based functional assays of patient fibroblasts and knockout yeast, and electron microscopy of patient samples...
October 8, 2018: Annals of Neurology
Krista Eschbach, Angela Moss, Charuta Joshi, Katie Angione, Garnett Smith, Amanda Dempsey, Elizabeth Juarez-Colunga, Scott T Demarest
INTRODUCTION: There is overlap in the electroclinical features of many childhood epilepsy syndromes, especially those presenting with multiple seizure types, such as epilepsy with myoclonic-atonic seizures (EMAS) and Lennox-Gastaut syndrome (LGS). This study aimed to determine the frequency of diagnosis switching and the factors influencing epilepsy syndrome diagnosis in a cohort of children with possible EMAS, as well as to explore the relationship between epilepsy syndrome diagnoses, key electroclinical features, and clinically relevant outcomes...
November 2018: Epilepsy Research
Camille Garcia-Ramos, Kevin Dabbs, Jack J Lin, Jana E Jones, Carl E Stafstrom, David A Hsu, Mary Elizabeth Meyerand, Vivek Prabhakaran, Bruce P Hermann
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)...
November 2018: Epilepsia
Cunzhou Shen, Wenbiao Xian, Hongyan Zhou, Xunhua Li, Xiuling Liang, Ling Chen
We present the case of a 16-year-old boy with a family history of epilepsy who presented with acute respiratory failure, limb weakness, diabetes mellitus, sinus tachycardia, lactic acidosis, and pneumonia. He went on to develop cranial nerve palsy, myoclonus, generalized seizures, ataxia, recurrent pneumonia, and hypotension. Biochemical investigation revealed elevated lactate, pyruvate, and glucose levels. Cerebral magnetic resonance imaging (MRI) revealed bilateral, symmetric, high-intensity T2-weighted signals in the thalamus, brainstem, and gray matter of the spinal cord...
2018: Frontiers in Neurology
Maureen S Mulhern, Constance Stumpel, Nicholas Stong, Han G Brunner, Louise Bier, Natalie Lippa, James Riviello, Rob P W Rouhl, Marlies Kempers, Rolph Pfundt, Alexander P A Stegmann, Mary K Kukolich, Aida Telegrafi, Anna Lehman, Elena Lopez-Rangel, Nada Houcinat, Magalie Barth, Nicolette den Hollander, Mariette J V Hoffer, Sarah Weckhuysen, Jolien Roovers, Tania Djemie, Diana Barca, Berten Ceulemans, Dana Craiu, Johannes R Lemke, Christian Korff, Heather C Mefford, Candace T Meyers, Zsuzsanna Siegler, Susan M Hiatt, Gregory M Cooper, E Martina Bebin, Lot Snijders Blok, Hermine E Veenstra-Knol, Evan H Baugh, Eva H Brilstra, Catharina M L Volker-Touw, Ellen van Binsbergen, Anya Revah-Politi, Elaine Pereira, Danielle McBrian, Mathilde Pacault, Bertrand Isidor, Cedric Le Caignec, Brigitte Gilbert-Dussardier, Frederic Bilan, Erin L Heinzen, David B Goldstein, Servi J C Stevens, Tristan T Sands
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identified 24 de novo NBEA variants in patients with NDD, establishing NBEA as an NDD gene. Most patients had epilepsy with onset in the first few years of life, often characterized by generalized seizure types, including myoclonic and atonic seizures. Our data show a broader phenotypic spectrum than previously described, including a myoclonic-astatic epilepsy-like phenotype in a subset of patients...
September 30, 2018: Annals of Neurology
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
Objective: To update the 2004 American Academy of Neurology (AAN) guideline for managing treatment-resistant (TR) epilepsy with second- and third-generation antiepileptic drugs (AEDs). Methods: 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. Results: Forty-two articles were included. Recommendations: The following are established as effective to reduce seizure frequency (Level A): immediate-release pregabalin and perampanel for TR adult focal epilepsy (TRAFE); vigabatrin for TRAFE (not first-line treatment; rufinamide for Lennox-Gastuat syndrome (LGS) (add-on therapy)...
July 2018: Epilepsy Currents
Andres M Kanner, Eric Ashman, David Gloss, Cynthia Harden, Blaise Bourgeois, Jocelyn F Bautista, Bassel Abou-Khalil, Evren Burakgazi-Dalkilic, Esmeralda Llanas Park, John Stern, Deborah Hirtz, Mark Nespeca, Barry Gidal, Edward Faught, Jacqueline French
Objective: 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). Methods: 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. Results: Several second-generation AEDs are effective for new-onset focal epilepsy. Data are lacking on efficacy in new-onset generalized tonic-clonic seizures, juvenile myoclonic epilepsy, or juvenile absence epilepsy, and on efficacy of third-generation AEDs in new-onset epilepsy...
July 2018: Epilepsy Currents
Tracey D Graves
No abstract text is available yet for this article.
2018: Neuropsychiatric Disease and Treatment
Carina Gonçalves Pedroso Uchida, Kelly Cristina de Carvalho, Mirian Salvadori Bittar Guaranha, Laura Maria Figueiredo F Guilhoto, Gerardo Maria de Araújo Filho, Elza Márcia Targas Yacubian
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. METHODS: Data from 22 JME patients with ECS confirmed by a VNPP (Group 1) were compared with those of 20 JME patients without any reflex traits (Group 2)...
September 17, 2018: Seizure: the Journal of the British Epilepsy Association
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