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atonic seizur adult

Patrick Ferreira, Stephanie M Luco, Sarah L Sawyer, Jorge Davila, Kym M Boycott, David A Dyment
Cerebral folate deficiency is a genetically heterogeneous condition.(1) Mutations in FOLR1 are responsible for a rare but treatable form of cerebral folate deficiency (OMIM #613068).(1) The gene codes for folate receptor alpha (FRα), a specific CNS folate transporter. Individuals with FOLR1-related folate deficiency present with ataxia, dyskinesia, spasticity, seizures, and regression in cognitive abilities and motor skills during early childhood.(2) Seizures commonly observed include generalized tonic-clonic, atonic, and myoclonic...
February 2016: Neurology. Genetics
S Jaraba, E Santamarina, J Miró, M Toledo, A Molins, J Burcet, J L Becerra, M Raspall, G Pico, E Miravet, A Cano, P Fossas, S Fernández, M Falip
OBJECTIVE: To explore the long-term effectiveness of rufinamide in managing Lennox-Gastaut Syndrome (LGS), other epileptic encephalopathies, and intractable focal epilepsies in adults and children in routine clinical practice. METHODS: A multicentre, retrospective chart review of patients prescribed adjunctive rufinamide at seven Spanish epilepsy centres, with assessments at six and 12 months. RESULTS: We evaluated data from 58 patients (40 male, age range 7-57 years), 25 of whom were diagnosed with LGS, 12 with other epileptic encephalopathies and 21 of whom were diagnosed with focal epilepsies, mainly frontal lobe...
February 29, 2016: Acta Neurologica Scandinavica
Yamane Makke, Ghassan Hmaimess, Wassim Nasreddine, Ahmad Fawaz, Ahmad Beydoun
BACKGROUND: Levetiracetam is a broad spectrum antiepileptic drug (AED) with proven efficacy when used as adjunctive therapy against myoclonic seizures. We report two patients suffering from epilepsy with myoclonic-astatic epilepsy (MAE) who experienced a paradoxical worsening of seizures after initiation of treatment with LEV, a finding not previously described. CASE PRESENTATION: Patients included were enrolled in an ongoing large prospective study evaluating children and adults with new onset epilepsy in Lebanon conducted at the American University of Beirut Medical Center in association with the Lebanese Chapter of the International League against Epilepsy...
2015: BMC Pediatrics
Tao Yu, Guojun Zhang, Yuping Wang, Duanyu Ni, Liang Qiao, Wei Du, Yuanyuan Piao, Yongjie Li
OBJECT: To study the role of epilepsy surgery for patients with focal lesions who exhibited the semiology of clinically generalised seizures. METHODS: From our epilepsy surgery series, we identified 29 patients who underwent surgery for seizures, including certain types of generalised seizures, according to their ictal semiology. We systematically reviewed the brain imaging, video-EEG, surgical operation, and pathological findings data of these patients. RESULTS: All patients had at least one type of generalised seizure according to the semiology; these seizures included epileptic spasms, myoclonic seizures, tonic seizures, atonic seizures and atypical absence seizures...
May 2015: Epilepsy Research
Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinéad B Heavin, Simone A Mandelstam, Dana Craiu, Samuel F Berkovic, Deepak S Gill, Heather C Mefford, Ingrid E Scheffer
OBJECTIVE: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2. METHODS: We analyzed the medical history, MRI, and video-EEG recordings of 9 individuals with de novo CHD2 mutations and one with a de novo 15q26 deletion encompassing CHD2. RESULTS: Seizures began at a mean of 26 months (12-42) with myoclonic seizures in all 10 cases...
March 3, 2015: Neurology
Samah K Aburahma, Firas Q Alzoubi, Hanan M Hammouri, Amira Masri
PURPOSE: To evaluate clinical outcomes, quality-adjusted life years (QALY), cost effectiveness and cost utility associated with VNS therapy in children with refractory epilepsy in a developing country. METHODS: Retrospective review of all children who underwent VNS implantation at King Abdullah University Hospital and Jordan University Hospital in Jordan. RESULTS: Twenty eight patients (16 males) had implantation of the VNS therapy system between the years 2007 and 2011...
February 2015: Seizure: the Journal of the British Epilepsy Association
Chad Carlson, Patricia Dugan, Heidi E Kirsch, Daniel Friedman
BACKGROUND: Despite the increasing interest in sex differences in disease manifestations and responses to treatment, very few data are available on sex differences in seizure types and semiology. The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, multi-institutional, collaborative study that aims to create a comprehensive repository of detailed clinical information and DNA samples from a large cohort of people with epilepsy. We used this well-characterized cohort to explore differences in seizure types as well as focal seizure symptoms between males and females...
December 2014: Epilepsy & Behavior: E&B
Yoko Ohtsuka, Harumi Yoshinaga, Yukiyoshi Shirasaka, Rumiko Takayama, Hiroki Takano, Kuniaki Iyoda
PURPOSE: To evaluate the efficacy, safety, and pharmacokinetics of rufinamide as an adjunctive therapy for patients with Lennox-Gastaut syndrome (LGS) in a randomized, double-blind, placebo-controlled trial. METHODS: We conducted a multicenter clinical trial with a 4-week baseline, a 2-week titration, a 10-week maintenance, and either a follow-up visit or entry into an open-label extension. Patients with LGS (4 to 30 years old) taking between one and three antiepileptic drugs were recruited...
November 2014: Epilepsy Research
Anne de Saint-Martin, Gabrielle Rudolf, Caroline Seegmuller, Maria Paola Valenti-Hirsch, Edouard Hirsch
Epileptic encephalopathy with continuous diffuse spike-waves during slow-wave sleep (ECSWS) presents clinically with infrequent nocturnal focal seizures, atypical absences related to secondary bilateral synchrony, negative myoclonia, and atonic and rare generalized tonic-clonic seizures. The unique electroencephalography (EEG) pattern found in ECSWS consists of continuous, diffuse, bilateral spike-waves during slow-wave sleep. Despite the eventual disappearance of clinical seizures and EEG abnormalities by adolescence, the prognosis is guarded in most cases because of neuropsychological and behavioral deficits...
August 2014: Epilepsia
Lina Stigsdotter-Broman, Ingrid Olsson, Roland Flink, Bertil Rydenhag, Kristina Malmgren
OBJECTIVE: Analyze the long-term outcome of callosotomies with regard to seizure types and frequencies and antiepileptic drug treatment. METHODS: This longitudinal observational study is based on data from the prospective Swedish National Epilepsy Surgery Register. Thirty-one patients had undergone callosotomy in Sweden 1995-2007 and had been followed for 2 and 5 or 10 years after surgery. Data on their seizure types and frequencies, associated impairments, and use of antiepileptic drugs have been analyzed...
February 2014: Epilepsia
Roberto Horacio Caraballo, Natalia Cejas, Noelia Chamorro, María C Kaltenmeier, Sebastian Fortini, Ana María Soprano
PURPOSE: The aim of the study was to retrospectively analyze the electroclinical features, etiology, treatment, and prognosis of 29 patients with Landau-Kleffner syndrome (LKS) with a long-term follow-up. METHODS: Inclusion criteria were a diagnosis of LKS with: (1) acquired aphasia or verbal auditory aphasia; (2) with or without focal seizures, secondarily generalized tonic-clonic seizures, absences, or atonic seizures. RESULTS: Mean follow-up was 12 years...
February 2014: Seizure: the Journal of the British Epilepsy Association
Ying Chen, Qing Yu, Wei-dong Yang, Cai-xia Xiao, Er-juan Yang, Hua-ai Guo, Hui Ouyang
OBJECTIVE: To explore the value of video-electroencephalography plus surface electromyography (VEEG+SEMG) in providing theoretic rationales for clinical diagnosis of different motor seizure types and differentiating the application value of paroxysmal diseases. METHODS: A total of 116 suspected and repetitive motion epileptics underwent VEEG+SEMG from 2009 to 2012. According to their clinical features, different muscles were selected to record electromyography (EMG) under different activations and stimulations (bodily movement and posture activation, touching, sound stimulus, tapping tendons and arms straight test, etc) and monitor their seizure states...
August 6, 2013: Zhonghua Yi Xue za Zhi [Chinese medical journal]
Yoshiki Tsuchiya, Junichi Hoshino, Tatsuya Suwabe, Keiichi Sumida, Rikako Hiramatsu, Koki Mise, Eiko Hasegawa, Masayuki Yamanouchi, Noriko Hayami, Naoki Sawa, Kenji Arizono, Shigeko Hara, Kenmei Takaichi, Takeshi Fujii, Yoshifumi Ubara
We report a Japanese woman with variegate porphyria accompanied by amyloid A (AA) amyloidosis. Arthropathy involving multiple joints occurred at 35 years old and persisted. C-reactive protein was 4.0 mg/dL, but rheumatoid factor was negative. Radiographs did not reveal any loss or narrowing of the joint spaces. Two years later, blister formation after sun exposure and reddish urine were first noted. At the age of 45 years, she developed abdominal pain, nausea, vomiting and seizures. After administration of phenobarbital, reddish urine was noted and muscular weakness progressed to atonic quadraparesis...
December 2013: Amyloid: the International Journal of Experimental and Clinical Investigation
Pinar Yalinay Dikmen, Zeynep Unlusoy Acar, Candan Gurses
OBJECTIVES: None of the classifications of psychogenic non-epileptic seizures (PNES) have been widely accepted and used by physicians so far. In this study we aimed at classifying PNES on the basis of a modified version of semiological seizure classification (SSC). We also sought to assess the interrater reliability (IRR) of the PNES diagnosis based on SSC. METHODS: We classified PNES into four types on the basis of our modification of SSC: pseudoaura, dialeptic, motor, and special (atonic, astatic, hypotonic) spells...
December 2013: Neurological Research
Scott F Dowell, James J Sejvar, Lul Riek, Katelijn A H Vandemaele, Margaret Lamunu, Annette C Kuesel, Erich Schmutzhard, William Matuja, Sudhir Bunga, Jennifer Foltz, Thomas B Nutman, Andrea S Winkler, Anthony K Mbonye
An epidemic illness characterized by head nodding associated with onchocerciasis has been described in eastern Africa since the early 1960s; we summarize published reports and recent studies. Onset of nodding occurs in previously healthy 5-15-year-old children and is often triggered by eating or cold temperatures and accompanied by cognitive impairment. Its incidence has increased in Uganda and South Sudan over the past 10 years. Four case-control studies identified modest and inconsistent associations. There were nonspecific lesions seen by magnetic resonance imaging, no cerebrospinal fluid inflammation, and markedly abnormal electroencephalography results...
2013: Emerging Infectious Diseases
Jacqueline A French, H Steve White, Henrik Klitgaard, Gregory L Holmes, Michael D Privitera, Andrew J Cole, Ellinor Quay, Samuel Wiebe, Dieter Schmidt, Roger J Porter, Alexis Arzimanoglou, Eugen Trinka, Emilio Perucca
A working group was created to address clinical "gaps to care" as well as opportunities for development of new treatment approaches for epilepsy. The working group primarily comprised clinicians, trialists, and pharmacologists. The group identified a need for better animal models for both efficacy and tolerability, and noted that animal models for potential disease-modifying or antiepileptogenic effect should mirror conditions in human trials. For antiseizure drugs (ASDs), current animal models have not been validated with respect to their relationship to efficacy in common epilepsy syndromes...
August 2013: Epilepsia
Michael S Park, Emily Nakagawa, Mike R Schoenberg, Selim R Benbadis, Fernando L Vale
We present, to our knowledge, the first published series of corpus callosotomy (CC) in adults with medically intractable symptomatic generalized epilepsy (SGE). Fifteen adults were followed for the outcome measures of seizure and antiepileptic drug (AED) burden and quality of life (QoL). Five (33%) patients reported >60%, one (7%) reported between 30 and 60%, and nine (60%) reported <30% reduction in the total number of seizures after CC. Seven (47%) patients reported >60%, three (20%) experienced between 30 and 60%, and five (33%) reported <30% atonic seizure reduction...
August 2013: Epilepsy & Behavior: E&B
Martín Donadío, Gabriela Ugarnes, Mónica Segalovich, Naomi Arakaki, Federico Sanchez Gonzalez, César Petre, Hugo Pomata, Carlos D'Giano
Atonic seizures are epileptic attacks characterised by a sudden loss or diminution of muscle tone. Structures corresponding to inhibitory cortical areas, such as the primary negative motor area or the supplementary negative motor area, could be responsible. We present findings observed in a patient with atonic seizures due to focal epilepsy, who underwent intracranial video-EEG monitoring and epilepsy surgery, and discuss possible underlying mechanisms. [Published with video sequences].
March 2013: Epileptic Disorders: International Epilepsy Journal with Videotape
Roberto Horacio Caraballo, Pierangelo Veggiotti, María C Kaltenmeier, Elena Piazza, Beatriz Gamboni, María Francisca Lopez Avaria, Daniel Noli, Javier Adi, Ricardo Cersosimo
PURPOSE: To retrospectively analyze the electroclinical features, etiology, treatment and prognosis of 117 patients with encephalopathy with status epilepticus during sleep (ESES) or continuous spike and waves slow sleep (CSWSS) syndrome with a long-term follow-up. METHODS: Charts of 117 patients with ESES/CSWSS syndrome followed between 1990 and 2012 were analyzed. Inclusion criteria were: (1) focal seizures or apparently generalized seizures and focal EEG epileptiform discharges; (2) further occurrence of atypical absences, and myoclonic, atonic, and/or generalized seizures; (3) cognitive impairment and/or behavior disturbances; (4) continuous spike-and-wave discharges during slow sleep in more than 85% of non-REM sleep...
July 2013: Epilepsy Research
M Bellon, C Walker, C Peterson
AIM: To examine self-report data on seizure-related injuries and hospitalizations. METHOD: We analyzed data from the 2010 Australian Epilepsy Longitudinal Survey, distributed to registrants on the Australian Epilepsy Research Register. 343 responses were received (55% response rate), providing insight into experiences of living with seizures. This article examines self-report data on injuries related to seizures and hospitalizations. RESULTS: 64% of those reporting injuries required hospital treatment...
January 2013: Epilepsy & Behavior: E&B
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