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absence epilepsy

Pratima Gulati, Puneet Jain, Hebah Qashqari, Laura Bradbury, Pamela Cooper, Hiroshi Otsubo, Robyn Whitney
A 17-years old girl presented with an 8-year history of absences with peri-oral twitching, eyelid twitching and head nodding, with poor response to anti-epileptic drugs. Video EEG revealed ictal and inter-ictal generalized spike wave discharges, and absences with peri-oral (predominant), eyelid, neck and shoulder myoclonia. There was also prominent eye closure sensitivity. Conundrums regarding epilepsy syndrome classification and pathophysiology are discussed.
June 12, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Reyhan Surmelı, Hatice Kurucu, Ayse Destina Yalcın, Seher Naz Yenı
The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video-EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA...
June 15, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Özdem Ertürk Çetin, Cengiz Yalçınkaya, Birsen Karaman, Veysi Demirbilek, Beyhan Tüysüz
Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2-21.1 duplication. The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmental delay, and dysmorphic features. Chromosome and array-CGH analysis revealed de novo 14q11.2-21...
June 15, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Z M Campbell, J M Hyer, S Lauzon, L Bonilha, M V Spampinato, M Yazdani
BACKGROUND AND PURPOSE: Temporal encephaloceles are increasingly visualized during neuroimaging assessment of individuals with refractory temporal lobe epilepsy, and their identification could indicate an intracranial abnormality that may be related to a potential seizure focus. Careful review by an experienced neuroradiologist may yield improved detection of TEs, and other clinical, neurophysiologic, and radiologic findings may predict their presence. MATERIALS AND METHODS: Data were reviewed retrospectively in patients at our institution who were presented at a multidisciplinary conference for refractory epilepsy between January 1, 2010, and December 31, 2016...
June 14, 2018: AJNR. American Journal of Neuroradiology
Jodi L Pawluski, Mathieu Kuchenbuch, Sarah Hadjadj, Gabriel Dieuset, Nathalie Costet, Laurent Vercueil, Arnaud Biraben, Benoît Martin
Childhood absence epilepsy (CAE) is one of the most frequent epilepsies in infancy. The first-line recommended therapy for CAE is based on the prescription of the narrow-spectrum ethosuximide and the broad-spectrum valproic acid, which have similar efficacy in the first 12 months. Nevertheless, some antiepileptic drugs (AEDs) may worsen seizure duration and type in this syndrome. In line with this, we have encountered a case of identical twins with CAE and early exposure to different antiseizure drugs leading to divergent outcomes...
June 14, 2018: Epilepsia
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 with second- and third-generation antiepileptic drugs (AEDs). METHODS: The 2004 AAN criteria were used to systematically review literature (January 2003-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...
June 13, 2018: Neurology
Péter Papp, Zsolt Kovács, Péter Szocsics, Gábor Juhász, Zsófia Maglóczky
Recent data from absence epileptic patients and animal models provide evidence for significant impairments of attention, memory, and psychosocial functioning. Here, we outline aspects of the electrophysiological and structural background of these dysfunctions by investigating changes in hippocampal and cortical GABAergic inhibitory interneurons in two genetically absence epileptic rat strains: the Genetic Absence Epilepsy Rats from Strasbourg (GAERS) and the Wistar Albino Glaxo/Rijswijk (WAG/Rij) rats. Using simultaneously recorded field potentials from the primary somatosensory cortex (S1 cortex, seizure focus) and the hippocampal hilus, we demonstrated that typical frequencies of spike-wave discharges (SWDs; 7-8 Hz, GAERS; 7-9 Hz, WAG/Rij) and their harmonics appeared and their EEG spectral power markedly increased on recordings not only from the S1 cortex, but also from the hilus in both GAERS and WAG/Rij rats during SWDs...
May 31, 2018: Epilepsy Research
Zachary B Jenner, Nuruddin Husein, Roy Riascos, Yoshua Esquenazi
Introduction Orbital meningoencephalocele formation is primarily a result of congenital defects in the pediatric population and trauma of the anterior cranial fossa in adults. We present a unique case of nontraumatic nasal and orbital meningoencephaloceles presenting as bilateral proptosis with exotropia secondary to chronic hydrocephalus. Clinical presentation A 20-year-old male with a history of tuberous sclerosis, X-linked intellectual disability, and epilepsy presented to the emergency department with two days of nausea, emesis, seizures, and two months of progressive proptosis...
January 1, 2018: Neuroradiology Journal
Vimal Doshi Veerappan, B Sweetha, H R Kavitha, B Sivalingam, Shanthi Nambi, Leema Pauline
Context: A significant subset of autistic children exhibit abnormal isolated epileptiform discharges (IEDs) in the absence of clinical epilepsy. The etiological significance of such IEDs is under much debate. Aims: The aim is to study the relationship between IEDs with risk factors, clinical severity, behavioral problems, and social-quotient and follow-up for the occurrence of new seizures. Settings and Design: This study was a prospective double-blind comparative study of autistic children with and without IEDs...
May 2018: Indian Journal of Psychological Medicine
Jéssica Lopes de Souza, Aline Scardoeli Faiola, Carmen Silvia Molleis Galego Miziara, Maria Luiza Giraldes de Manreza
Objective: To evaluate the perceived social stigma of people with epilepsy with regard to the question of employability. Methods: A structured questionnaire was given to two groups of people with chronic diseases: those with epilepsy (study group) and those with heart disease (control group). The questions concerned employability. Results: Having epilepsy was more strongly associated with higher unemployment rates ( p < 0.0001); job layoffs ( p = 0...
2018: Neurology Research International
Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, Kristin Bokelmann, Markus A Schirmer, Jonas Denecke, René Santer
The human WWOX (WW domain-containing oxidoreductase) gene, originally known as a tumor suppressor gene, has been shown to be important for brain function and development. In recent years, mutations in WWOX have been associated with a wide phenotypic spectrum of autosomal recessively inherited neurodevelopmental disorders. Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. Functional WWOX analysis was performed in fibroblasts of one patient. Transcription and translation were assessed by quantitative real-time PCR and Western blotting...
May 28, 2018: Neurogenetics
Liam Healy, Maria Moran, Sumeet Singhal, Michael F O'Donoghue, Rania Alzoubidi, William P Whitehouse
PURPOSE: Conventional teaching is that juvenile myoclonic epilepsy (JME) and juvenile absence epilepsy (JAE) require lifelong antiepileptic drug (AED) treatment. We therefore wanted to determine how many patients attending our epilepsy service with JAE or JME went into 2 year remission, and then relapsed, both off and on AEDs. METHOD: This was a retrospective case-notes review. Patients with JAE and JME were systematically ascertained from clinic lists and databases at one teaching hospital...
May 20, 2018: Seizure: the Journal of the British Epilepsy Association
Imane A Yassine, Waleed M Eldeeb, Khaled A Gad, Yossri A Ashour, Inas A Yassine, Ahmed O Hosny
INTRODUCTION: Neurocognitive impairment represents one of the most common comorbidities occurring in children with idiopathic epilepsy. Diagnosis of the idiopathic form of epilepsy requires the absence of any macrostructural abnormality in the conventional MRI. Though changes can be seen at the microstructural level imaged using advanced techniques such as the Diffusion Tensor Imaging (DTI). AIM OF THE WORK: The aim of this work is to study the correlation between the microstructural white matter DTI findings, the electroencephalographic changes and the cognitive dysfunction in children with active idiopathic epilepsy...
May 21, 2018: Epilepsy & Behavior: E&B
Daniel W M Acker, Irene Wong, Mihwa Kang, Suzanne Paradis
OBJECTIVE: We previously discovered a role for the extracellular domain of the transmembrane protein semaphorin 4D (Sema4D) as a fast-acting, selective, and positive regulator of functional γ-aminobutyric acid (GABA)ergic synapse formation in hippocampal neuronal culture. We also demonstrated that Sema4D treatment increases inhibitory tone and suppresses hyperexcitability in an organotypic hippocampal slice culture model of epilepsy. Here, we investigate the ability of Sema4D to promote GABAergic synapse formation and suppress seizure activity in vivo in adult mice...
May 25, 2018: Epilepsia
Francesca Pittau, Maxime O Baud, João Jorge, Lijing Xin, Frédéric Grouiller, Giannina R Iannotti, Margitta Seeck, François Lazeyras, Serge Vulliémoz, Maria Isabel Vargas
BACKGROUND AND PURPOSE: Surgery is the first choice therapeutic approach in case of drug-resistant epilepsy. Unfortunately, up to 43% of patients referred for presurgical assessment do not have a lesion detectable by routine 3T magnetic resonance imaging (MRI) (MRI-negative), although most of them likely have an underlying epileptogenic lesion. Thus, new MRI modalities with increased sensibility for epileptogenic lesions are required. This paper describes the magnetization-prepared two rapid acquisition gradient echoes (MP2RAGE) and susceptibility-weighted imaging (SWI) findings at 7T in a series of patients with drug-resistant epilepsy of different etiologies...
May 24, 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
Özlem Kirazlı, Hüsniye Hacıoğlu Bay, Yusuf Özgür Çakmak, Filiz Onat, Safiye Çavdar
Ventricular enlargement and cortical atrophy have been associated with various central nervous system diseases. The aim of the present study was to measure the volumes of the lateral (LV) and third (3V) ventricles and to determine the cortical thickness for the motor (MCx), somatosensory (SSCx), visual (VCx) and auditory (AuCx) cortex and the striatum of Wistar rats, in a developmental series at 10, 20, 30, and 60 days postnatal, and to compare them with similar data from genetic absence epilepsy rats from Strasbourg (GAERS)...
May 21, 2018: International Journal of Developmental Neuroscience
Riyo Ueda, Yuko Shimizu-Motohashi, Kenji Sugai, Eri Takeshita, Akihiko Ishiyama, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Masayuki Sasaki
Diagnosis of seizure imitators in children is often challenging, and individuals with intellectual disability (ID) could be at additional risk of seizure imitator misdiagnosis. We aimed to elucidate distinct features of clinical semiology among children of different intellectual levels, which may help in distinguishing seizure imitators from epilepsy in such individuals. We retrospectively compared semiological features of seizure imitators in children with and without ID captured using video-electroencephalography (video-EEG)...
May 20, 2018: Epilepsy & Behavior: E&B
Eun Hye Lee, Hoi Soo Yoon
No abstract text is available yet for this article.
May 22, 2018: World Journal of Pediatrics: WJP
Chusak Limotai, Patcharapa Tasanaworapunya, Iyavut Thaipisuttikul
This study aimed to determine diagnostic performance of the EEG in diagnosing seizures and to ascertain risk factors associated with seizures in the elderly presenting with episodes of unresponsiveness compared with younger patients. This is a cross-sectional study. Only EEGs requested with indication of transient unresponsiveness (TUR) were included. Patients were divided into 2 groups, younger (aged 18-49 years) and elderly (aged >60 years). The EEG was an index test. Reference standard, independently verified by 2 board-certified neurologists, was a clinical diagnosis of presence or absence of epilepsy/probable seizures...
May 1, 2018: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
Argirios Dinopoulos, Maria A Tsirouda, Anastasios Bonakis, Roser Pons, Ioanna D Pavlopoulou, Konstantinos Tsoumakas
PURPOSE: Childhood absence epilepsy (CAE) is an epileptic syndrome presenting between 2nd-10th years. The spells are elicited with hyperventilation (HV) while sleep seems to exacerbate the electrical activity. Our aim is to describe sleep architecture and its relationship with epileptic discharges (EDs) in patients with CAE, before treatment and one year later. METHODS: Twenty-eight, drug-naive children were recruited (21 girls), mean age 90.1 ± 32.6 months...
April 30, 2018: Seizure: the Journal of the British Epilepsy Association
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