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https://www.readbyqxmd.com/read/28538134/trial-of-cannabidiol-for-drug-resistant-seizures-in-the-dravet-syndrome
#1
Orrin Devinsky, J Helen Cross, Linda Laux, Eric Marsh, Ian Miller, Rima Nabbout, Ingrid E Scheffer, Elizabeth A Thiele, Stephen Wright
BACKGROUND: The Dravet syndrome is a complex childhood epilepsy disorder that is associated with drug-resistant seizures and a high mortality rate. We studied cannabidiol for the treatment of drug-resistant seizures in the Dravet syndrome. METHODS: In this double-blind, placebo-controlled trial, we randomly assigned 120 children and young adults with the Dravet syndrome and drug-resistant seizures to receive either cannabidiol oral solution at a dose of 20 mg per kilogram of body weight per day or placebo, in addition to standard antiepileptic treatment...
May 25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28534947/research-and-progress-on-clc%C3%A2-2-review
#2
Hongwei Wang, Minghui Xu, Qingjie Kong, Peng Sun, Fengyun Yan, Wenying Tian, Xin Wang
Chloride channel 2 (ClC-2) is one of the nine mammalian members of the ClC family. The present review discusses the molecular properties of ClC‑2, including CLCN2, ClC‑2 promoter and the structural properties of ClC‑2 protein; physiological properties; functional properties, including the regulation of cell volume. The effects of ClC‑2 on the digestive, respiratory, circulatory, nervous and optical systems are also discussed, in addition to the mechanisms involved in the regulation of ClC‑2. The review then discusses the diseases associated with ClC‑2, including degeneration of the retina, Sjögren's syndrome, age‑related cataracts, degeneration of the testes, azoospermia, lung cancer, constipation, repair of impaired intestinal mucosa barrier, leukemia, cystic fibrosis, leukoencephalopathy, epilepsy and diabetes mellitus...
May 18, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#3
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28533141/common-and-distinctive-patterns-of-cognitive-dysfunction-in-children-with-benign-epilepsy-syndromes
#4
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Xinlin Zhou, Qian Chen
BACKGROUND: Childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes are the most common forms of benign epilepsy syndromes. Although cognitive dysfunctions occur in children with both childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes, the similarity between their patterns of underlying cognitive impairments is not well understood. To describe these patterns, we examined multiple cognitive functions in children with childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28528895/influence-of-perfluorocarbons-on-carbamazepine-and-benzodiazepine-for-a-neuro-lung-protective-strategy
#5
V Natchimuthu, Sabu Thomas, Murugan Ramalingam, S Ravi
Lennox-Gastaut syndrome (LGS) is commonly characterized by a triad of features including multiple seizure types, intellectual disability or regression. LGS type of seizures is epilepsy which is due to abnormal vibrations occurring in seizures. During the time of such abnormal vibrations, both the seizures and the lungs suffer a lack in oxygen content to a considerable extent. This results in prolonged vibrations and loses of nervous control. As a neuro-lung protective strategy, a novel attempt has been made to enrich both seizures and lungs with oxygen content through the support of Perfluorodecalin (an excellent oxygen carrier) C10F18 (PFD) and Perfluorohexane C6F14 (PFH) along with an enhancement in the antiepileptic activity by the two chosen antiepileptic drugs (AEDs) Carbamazepine (CBZ) and Benzodiazepine (BDZ)...
May 18, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28526280/an-overview-of-medical-risk-factors-for-childhood-psychosis-implications-for-research-and-treatment
#6
REVIEW
Marianna Giannitelli, Angèle Consoli, Marie Raffin, Renaud Jardri, Douglas F Levinson, David Cohen, Claudine Laurent-Levinson
OBJECTIVE: Psychotic disorders in childhood and early adolescence often progress to chronic schizophrenia, but in many cases there are diagnosable medical and genetic causes or risk factors. We reviewed our clinical experience and the relevant literature to identify these factors and to define their clinical features, appropriate work-up and treatment. METHOD: We reviewed the results of comprehensive medical evaluations of 160 psychotic children and adolescents in our center...
May 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28525652/determination-of-scn1a-genetic-variants-in-mexican-patients-with-refractory-epilepsy-and-dravet-syndrome
#7
R E Jiménez-Arredondo, A J L Brambila-Tapia, F M Mercado-Silva, M T Magaña-Torres, L E Figuera
Mutations in the SCN1A gene can result in syndromes associated with epilepsy, including the Dravet syndrome (DS). However, the prevalence of such mutations in these diseases varies widely between different studies, and has not been examined in Mexican patients with epilepsy. Therefore, the objective of this study was to determine the frequency of SCN1A mutations (in the exon 26) in a cohort of Mexican patients with DS and refractory epilepsy (RE). We recruited 24 Mexican patients (14 males and 10 females), of which 15 were diagnosed with RE and 9 were diagnosed with DS...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28524224/-epileptic-encephalopathies-in-infancy-how-do-we-treat-them-does-the-aetiology-influence-the-response-to-treatment
#8
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/28524223/-infantile-epileptic-encephalopathies-what-matters-is-genetics
#9
J J Garcia-Penas, M Jimenez-Legido
INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524221/-epileptic-spasms-in-infants-beyond-hypsarrhythmia
#10
M Garcia-Fernandez
Epileptic spasms are the most frequent type of epileptic seizures in infants. They can also occur beyond the period of infancy, within the context of other epileptic encephalopathies or as an expression of a focal or generalised epilepsy. The clinical semiology of epileptic spasms varies greatly. They sometimes consist of very subtle clinical manifestations, which occur in series, without the typical axorhizomelic contraction, or in association with focal seizures. The critical EEG correlate is also very variable and basically consists of the combination of a hypervoltage slow wave, a bout of rapid low-amplitude activity or a diffuse attenuation of the trace...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#11
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28523600/sodium-channel-blockers-in-the-treatment-of-epilepsy
#12
Martin J Brodie
Sodium channel blockers have been the mainstay of the pharmacological management of focal and generalised tonic-clonic seizures for more than 70 years. The focus of this paper will be on phenytoin, carbamazepine, lamotrigine, oxcarbazepine, rufinamide, lacosamide and eslicarbazepine acetate. All these antiepileptic drugs have similar efficacy and share similar dose-dependent, adverse effect profiles, although phenytoin, carbamazepine and oxcarbazepine are more likely to cause idiosyncratic reactions than the others...
May 18, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28521807/case-report-a-novel-frameshift-mutation-in-the-mitochondrial-cytochrome-c-oxidase-ii-gene-causing-mitochondrial-disorder
#13
Laura Kytövuori, Mikko Kärppä, Hannu Tuominen, Johanna Uusimaa, Markku Saari, Reetta Hinttala, Kari Majamaa
BACKGROUND: Mitochondrial cytochrome c oxidase 2, MT-CO2, encodes one of the three subunits, which form the catalytic core of cytochrome c oxidase (COX), complex IV. Mutations in MT-CO2 are rare and the associated phenotypes are variable including nonsyndromic and syndromic forms of mitochondrial diseases. CASE PRESENTATION: We describe a 30-year-old man with cognitive decline, epilepsy, psychosis, exercise intolerance, sensorineural hearing impairment, retinitis pigmentosa, cataract and lactic acidosis...
May 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28521067/antiepileptic-drugs-for-the-treatment-of-infants-with-severe-myoclonic-epilepsy
#14
REVIEW
Francesco Brigo, Stanley C Igwe, Nicola Luigi Bragazzi
BACKGROUND: This is an updated version of the original Cochrane review published in 2015, Issue 10.Severe myoclonic epilepsy in infants (SMEI), also known as Dravet syndrome, is a rare, refractory form of epilepsy, for which stiripentol (STP) has been recently licensed as add-on therapy. OBJECTIVES: To evaluate the efficacy and tolerability of STP and other antiepileptic drug treatments (including ketogenic diet) for patients with SMEI. SEARCH METHODS: For the latest update we searched the Cochrane Epilepsy Group Specialized Register (20 December 2016), the Cochrane Central Register of Controlled Trials (CENTRAL) via the Cochrane Register of Studies Online (CRSO, 20 December 2016), MEDLINE (Ovid, 1946 to 20 December 2016) and ClinicalTrials...
May 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28518218/comparison-and-optimization-of-in-silico-algorithms-for-predicting-the-pathogenicity-of-sodium-channel-variants-in-epilepsy
#15
Katherine D Holland, Thomas M Bouley, Paul S Horn
OBJECTIVE: Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases...
May 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28513609/application-of-rare-variant-transmission-disequilibrium-tests-to-epileptic-encephalopathy-trio-sequence-data
#16
(no author information available yet)
The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient-parent trios that were generally prescreened for rare metabolic disorders...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28506334/-mecp2-duplication-syndrome-a-clinical-analysis-of-three-cases-and-literature-review
#17
Dan-Xia Tang, Dong-Fang Li, Ruo-Hao Wu, Li-Na Zhang, Xiang-Yang Luo
MECP2 duplication syndrome (MDS) is a rare pediatric disease and mainly manifests as delayed motor development, language loss or delay, recurrent infection, severe intellectual disability, epilepsy, autistic symptoms, and early infantile hypotonia. In this article, the three children with this disease were all boys. Cases 1 and 2 had delayed motor development, and language loss or delay as initial manifestations, and case 3 had recurrent infection as initial manifestation. Physical examination showed hypotonia and negative pathological signs in each case...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28505490/heat-induced-temperature-dysregulation-and-seizures-in-dravet-syndrome-gefs-gabrg2-q390x-mice
#18
Timothy A Warner, Zhong Liu, Robert L Macdonald, Jing-Qiong Kang
It has been established that febrile seizures and its extended syndromes like generalized epilepsy with febrile seizures (FS) plus (GEFS+) and Dravet syndrome have been associated with mutations especially in SCN1A and GABRG2 genes. In patients, the onset of FS is likely due to the combined effect of temperature and inflammation in genetically vulnerable individuals because fever is often associated with infection. Much effort has been spent to understand the mechanisms underlying fever induction of seizures...
April 30, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28505103/neuronal-migration-and-auts2-syndrome
#19
REVIEW
Kei Hori, Mikio Hoshino
Neuronal migration is one of the pivotal steps to form a functional brain, and disorganization of this process is believed to underlie the pathology of psychiatric disorders including schizophrenia, autism spectrum disorders (ASD) and epilepsy. However, it is not clear how abnormal neuronal migration causes mental dysfunction. Recently, a key gene for various psychiatric diseases, the Autism susceptibility candidate 2 (AUTS2), has been shown to regulate neuronal migration, which gives new insight into understanding this question...
May 14, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28503985/diagnostic-and-therapeutic-management-of-a-first-unprovoked-seizure-in-children-and-adolescents-with-a-focus-on-the-revised-diagnostic-criteria-for-epilepsy
#20
Arnold J Sansevere, Jennifer Avalone, Lauren Doyle Strauss, Archana A Patel, Anna Pinto, Maya Ramachandran, Ivan Sanchez Fernandez, Ann M Bergin, Amir Kimia, Phillip L Pearl, Tobias Loddenkemper
By definition, unprovoked seizures are not precipitated by an identifiable factor, such as fever or trauma. A thorough history and physical examination are essential to caring for pediatric patients with a potential first unprovoked seizure. Differential diagnosis, EEG, neuroimaging, laboratory tests, and initiation of treatment will be reviewed. Treatment is typically initiated after 2 unprovoked seizures, or after 1 seizure in select patients with distinct epilepsy syndromes. Recent expansion of the definition of epilepsy by the ILAE allows for the diagnosis of epilepsy to be made after the first seizure if the clinical presentation and supporting diagnostic studies suggest a greater than 60% chance of a second seizure...
January 1, 2017: Journal of Child Neurology
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