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https://www.readbyqxmd.com/read/29625812/scn2a-mutation-in-an-infant-presenting-with-migrating-focal-seizures-and-infantile-spasm-responsive-to-a-ketogenic-diet
#1
Da-Jyun Su, Jyh-Feng Lu, Li-Ju Lin, Jao-Shwann Liang, Kun-Long Hung
SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29604340/a-case-of-pitt-hopkins-syndrome-with-de-novo-mutation-in-tcf4-clinical-features-and-treatment-for-epilepsy
#2
Yedan Liu, Ya Guo, Peipei Liu, Fei Li, Chengqing Yang, Jie Song, Jingfei Hu, Dandan Xin, Zongbo Chen
Pitt-Hopkins syndrome (PTHS), belonging to the group of 18q-syndromes, is a rare genetic disorder caused by mutations in TCF4. PTHS is characterized by distinctive facial appearance, intermittent hyperventilation, intellectual disability and developmental delay. Although patients with PTHS generally have various systemic symptoms, most of themwith a TCF4 mutation manifest the central nervous system (CNS) disorders. We described the first Chinese case with Pitt-Hopkins syndrome based on clinical presentations and genetic findings...
March 28, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29487964/-use-of-antiepileptic-drugs-during-breastfeeding-what-do-we-tell-the-mother
#3
M Crettenand, A O Rossetti, T Buclin, U Winterfeld
BACKGROUND: Knowledge about the passage of various antiepileptic drugs into breast milk and its consequences for the infant is limited. Faced with this uncertainty, breastfeeding is often discouraged for these patients. The aim of this study was to comprehensively review the available data regarding antiepileptic drugs during breastfeeding, to compare these data with information provided by the summary of product characteristics (SmPCs), and to provide recommendations for the use of these drugs in breastfeeding women...
February 27, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29482712/bipolar-affective-disorder-in-a-patient-of-profound-deafness
#4
Usama Bin Zubair, Humza Mumtaz, Sawera Mansoor
Profound deafness is a lifelong impairment, leading to the physical disability as well as poor psychological adjustment. We herein present a mental health disorder rarely seen among the patients of profound deafness. A 16-year deaf and dumb girl, previously treated for depression, presented with unusual laughter, irritability, flight of ideas, decreased sleep, ideas of self importance, and decreased social functioning and educational performance. These problems were understood by the parents via sign language, who interpreted them to the interviewer...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29459981/association-between-prenatal-valproate-exposure-and-performance-on-standardized-language-and-mathematics-tests-in-school-aged-children
#5
Lars Skou Elkjær, Bodil Hammer Bech, Yuelian Sun, Thomas Munk Laursen, Jakob Christensen
Importance: Valproate sodium is used for the treatment of epilepsy and other neuropsychiatric disorders in women of childbearing potential. However, there are concerns about impaired cognitive development in children who have been exposed to valproate during pregnancy. Objective: To estimate the association between long-term school performance and prenatal exposure to valproate and a number of other antiepileptic drugs (AEDs). Design, Setting, and Participants: In a prospective, population-based cohort study conducted from August 1, 2015, to May 31, 2017, data used in the study were provided by Statistics Denmark on April 15, 2016...
February 19, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29416935/familial-cortical-myoclonic-tremor-and-epilepsy-an-enigmatic-disorder-from-phenotypes-to-pathophysiology-and-genetics-a-systematic-review
#6
REVIEW
Tom van den Ende, Sarvi Sharifi, Sandra M A van der Salm, Anne-Fleur van Rootselaar
Background: Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria...
2018: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29191768/interactions-of-aliskiren-a-direct-renin-inhibitor-with-antiepileptic-drugs-in-the-test-of-maximal-electroshock-in-mice
#7
Krzysztof Łukawski, Grzegorz Raszewski, Stanisław J Czuczwar
Experimental studies showed that certain angiotensin-converting enzyme inhibitors and angiotensin AT1 receptor antagonists can decrease seizure severity in rodents. Additionally, some of these blockers of the renin-angiotensin system have been documented to enhance the anticonvulsant activity of antiepileptic drugs against maximal electroshock-induced seizures. The aim of the current study was to investigate the effect of aliskiren, a direct renin inhibitor and a novel antihypertensive drug, on the protective action of numerous antiepileptic drugs (carbamazepine, valproate, clonazepam, phenobarbital, oxcarbazepine, lamotrigine, topiramate and pregabalin) in the test of maximal electroshock in mice...
January 15, 2018: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29027197/the-risk-of-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-new-users-of-antiepileptic-drugs
#8
Noel Frey, Michael Bodmer, Andreas Bircher, Stephan Rüegg, Susan S Jick, Christoph R Meier, Julia Spoendlin
OBJECTIVE: Older antiepileptic drugs (AEDs) are known to cause Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN). However, evidence for newer AED is sparse. We quantified risks of SJS/TEN in association with use of all AEDs in the United Kingdom. METHODS: In a matched case-control study of 480 previously validated SJS/TEN cases (1995-2013) we used conditional logistic regression to calculate odds ratios (ORs) with 95% confidence intervals (CIs), and calculated absolute risks of SJS/TEN within separate cohorts of new users of 28 AEDs...
December 2017: Epilepsia
https://www.readbyqxmd.com/read/28729328/comparative-safety-of-antiepileptic-drugs-for-neurological-development-in-children-exposed-during-pregnancy-and-breast-feeding-a-systematic-review-and-network-meta-analysis
#9
Areti Angeliki Veroniki, Patricia Rios, Elise Cogo, Sharon E Straus, Yaron Finkelstein, Ryan Kealey, Emily Reynen, Charlene Soobiah, Kednapa Thavorn, Brian Hutton, Brenda R Hemmelgarn, Fatemeh Yazdi, Jennifer D'Souza, Heather MacDonald, Andrea C Tricco
OBJECTIVES: Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. DESIGN AND SETTING: Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. PARTICIPANTS: 29 cohort studies including 5100 infants/children...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28649495/non-hyperammonaemic-valproate-encephalopathy-after-20%C3%A2-years-of-treatment
#10
Elizabeth Caruana Galizia, Jeremy D Isaacs, Hannah R Cock
Sodium valproate is a commonly used antiseizure drug with broad indications for different seizuretypes and epilepsy syndromes. Well-recognised side effects include weight gain, tremor, dizziness, and unsteadiness. Non-hyperammonaemic parkinsonism, with or without cognitive impairment, is a rare adverse effect of sodium valproate. We present the case of a sixty year-old lady with a generalized seizure disorder, treated with phenytoin, valproate, lamotrigine and clonazepam. Following withdrawal of phenytoin she developed an akinetic-rigid syndrome, with ataxia and marked cognitive impairment...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28524224/-epileptic-encephalopathies-in-infancy-how-do-we-treat-them-does-the-aetiology-influence-the-response-to-treatment
#11
S Roldan
INTRODUCTION: Resistance to treatments is a common feature of Ohtahara, Aicardi, West and Dravet syndromes, as well as malignant migrating epilepsy in infancy. AIMS: To update the therapeutic management and to analyse whether the aetiology somehow determines the treatment. DEVELOPMENT: Convulsive seizures in the first year of life may be due to a potentially treatable aetiology, which makes it essential to carry out a complete evaluation so as to be able to begin, as early as possible, the most suitable and the non-specific symptomatic treatments to control the seizures, which prevents or minimises their deleterious effects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28449218/development-and-pharmacologic-characterization-of-the-rat-6-hz-model-of-partial-seizures
#12
COMPARATIVE STUDY
Cameron S Metcalf, Peter J West, Kyle E Thomson, Sharon F Edwards, Misty D Smith, H Steve White, Karen S Wilcox
OBJECTIVE: The mouse 6 Hz model of psychomotor seizures is a well-established and commonly used preclinical model for antiseizure drug (ASD) discovery. Despite its widespread use both in the identification and differentiation of novel ASDs in mice, a corresponding assay in rats has not been developed. We established a method for 6 Hz seizure induction in rats, with seizure behaviors similar to those observed in mice including head nod, jaw clonus, and forelimb clonus. METHODS: A convulsive current that elicits these seizure behaviors in 97% of rats (CC97 ) was determined using a Probit analysis...
June 2017: Epilepsia
https://www.readbyqxmd.com/read/28342959/early-lance-adams-syndrome-after-cardiac-arrest-prevalence-time-to-return-to-awareness-and-outcome-in-a-large-cohort
#13
Irene Aicua Rapun, Jan Novy, Daria Solari, Mauro Oddo, Andrea O Rossetti
INTRODUCTION: Early myoclonus after cardiac arrest (CA) is traditionally viewed as a poor prognostic sign (status myoclonus). However, some patients may present early Lance-Adams syndrome (LAS): under appropriate treatment, they can reach a satisfactory functional outcome. Our aim was to describe their profile, focusing on pharmacologic management in the ICU, time to return of awareness, and long-term prognosis. METHODS: Adults with early LAS (defined as generalized myoclonus within 96h, with epileptiform EEG within 48h after CA) were retrospectively identified in our CA registry between 2006 and 2016...
June 2017: Resuscitation
https://www.readbyqxmd.com/read/28288483/efficacy-of-treatments-for-infantile-spasms-a-systematic-review
#14
REVIEW
Ji Min Song, Jongsung Hahn, Se Hee Kim, Min Jung Chang
OBJECTIVES: West syndrome (also known as infantile spasm because of its main seizure type) is a rare form of epilepsy that begins during early infancy. Recent guidelines and reviews on West syndrome recommend the use of adrenocorticotropic hormone steroids, or vigabatrin, as the first-line treatment. However, West syndrome remains to be one of the most challenging epilepsies to treat. Here, we systematically reviewed the current literature obtained during the previous decade. This article provides an overview of the current treatment of infantile spasms...
March 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/27965623/transcranial-alternating-current-stimulation-a-potential-risk-for-genetic-generalized-epilepsy-patients-study-case
#15
Daniel San-Juan, Carlos Ignacio Sarmiento, Axel Hernandez-Ruiz, Ernesto Elizondo-Zepeda, Gabriel Santos-Vázquez, Gerardo Reyes-Acevedo, Héctor Zúñiga-Gazcón, Carol Marina Zamora-Jarquín
Transcranial alternating current stimulation (tACS) is a re-emergent neuromodulation technique that consists in the external application of oscillating electrical currents that induces changes in cortical excitability. We present the case of a 16-year-old female with pharmaco-resistant juvenile myoclonic epilepsy to 3 antiepileptic's drugs characterized by 4 myoclonic and 20 absence seizures monthly. She received tACS at 1 mA at 3 Hz pulse train during 60 min over Fp1-Fp2 (10-20 EEG international system position) during 4 consecutive days using an Endeavor™ IOM Systems device(®) (Natus Medical Incorporated, Middleton, WI, USA)...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27890484/25-years-of-advances-in-the-definition-classification-and-treatment-of-status-epilepticus
#16
REVIEW
Eugen Trinka, Reetta Kälviäinen
PURPOSE: Status epilepticus (SE) requires not only urgent symptomatic treatment with antiepileptic drugs but also rapid identification and treatment of its cause. This narrative review summarizes the most important advances in classification and treatment of SE. METHOD: Data sources included MEDLINE, EMBASE, ClinicalTrials.gov, and back tracking of references in pertinent studies, reviews, and books. RESULTS: SE is now defined as "a condition resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms, which lead to abnormally, prolonged seizures (after time point t1)...
January 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27778062/cytisine-inhibits-the-protective-activity-of-various-classical-and-novel-antiepileptic-drugs-against-6-hz-induced-psychomotor-seizures-in-mice
#17
Piotr Tutka, Maria W Kondrat-Wróbel, Katarzyna Zaluska, Dorota Żółkowska, Magdalena Florek-Łuszczki, Jarogniew J Łuszczki
BACKGROUND: Cytisine (CYT) is a partial agonist of brain α4β2 nicotinic acetylcholine receptors widely used in Central/Eastern Europe for smoking cessation. OBJECTIVES: This study evaluated the effect of CYT on the ability of classical and novel antiepileptic drugs to prevent seizures evoked by the 6-Hz test, a model of psychomotor seizures in mice thought as a model of drug-resistant seizures. RESULTS: CYT administered intraperitoneally (i...
January 2017: Psychopharmacology
https://www.readbyqxmd.com/read/27629998/myoclonus-and-seizures-in-progressive-myoclonus-epilepsies-pharmacology-and-therapeutic-trials
#18
REVIEW
Roberto Michelucci, Elena Pasini, Patrizia Riguzzi, Eva Andermann, Reetta Kälviäinen, Pierre Genton
Generalized motor seizures, usually tonic-clonic, tonic-vibratory, myoclonic or clonic, and stimulus-sensitive/action myoclonus are typical features of progressive myoclonus epilepsies (PMEs). Despite the introduction of many anticonvulsants, the treatment of these symptoms, particularly myoclonus, remains challenging, due to the incomplete and often transitory effects of most drugs. Moreover, treatment is only symptomatic, since therapy targeting the underlying aetiology for these genetic conditions is in its infancy...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27524391/sulthiame-induced-drug-reaction-with-eosinophilia-and-systemic-symptoms-dress-syndrome
#19
Choong Yi Fong, Nurmaira Hashim, Chin Seng Gan, Tak Kuan Chow, Chee Geap Tay
BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare and potentially life-threatening acute drug-induced hypersensitivity reaction. Antiepileptic drugs (AEDs) predominantly aromatic AEDs are commonly reported in DRESS. To date there are no reports of sulthiame AED causing DRESS syndrome. METHOD: We report a 10-year-old girl of Indian descent with AED resistant epilepsy on maintenance sodium valproate and clonazepam. Sulthiame AED was initiated to try to improve her seizure control...
November 2016: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27233055/withdrawn-anticonvulsant-drugs-for-migraine-prophylaxis
#20
REVIEW
Edward P Chronicle, Wim M Mulleners
No abstract text is available yet for this article.
May 27, 2016: Cochrane Database of Systematic Reviews
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