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https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#1
Jing Peng, Ying Wang, Fang He, Chen Chen, Li-Wen Wu, Li-Fen Yang, Yu-Ping Ma, Wen Zhang, Zi-Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
AIMS: West syndrome (WS) is a classic form of early infantile epileptic encephalopathy (EIEE) characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on electroencephalography. Genetic defects play a critical role in the pathology of WS, and 54 EIEE genes have been identified till date. This study was designed to uncover new candidate genes for West syndrome. METHODS: In this study, we recruited 56 Chinese families with WS of unknown etiology...
April 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29656099/hypsarrhythmia-in-epileptic-spasms-synchrony-in-chaos
#2
Vera Nenadovic, Robyn Whitney, Jason Boulet, Miguel A Cortez
PURPOSE: Hypsarrhythmia is an electroencephalographic pattern associated with epileptic spasms and West syndrome. West syndrome is a devastating epileptic encephalopathy, originating in infancy. Hypsarrhythmia has been deemed to be the interictal brain activity, while the electrodecremental event associated with the spasms is denoted as the ictal event. Though characterized as chaotic, asynchronous and disorganized based on visual inspection of the EEG, little is known of the dynamics of hypsarrhythmia and how it impacts the developmental arrest of these infants...
March 30, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29625812/scn2a-mutation-in-an-infant-presenting-with-migrating-focal-seizures-and-infantile-spasm-responsive-to-a-ketogenic-diet
#3
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/29619234/infantile-spasms-related-to-a-5q31-2-q31-3-microdeletion-including-pura
#4
Keiko Shimojima, Nobuhiko Okamoto, Kayo Ohmura, Hiroaki Nagase, Toshiyuki Yamamoto
Recently, haploinsufficiency of PURA has been identified as an essential cause of 5q31.3 microdeletion syndrome, which is characterized by severe psychomotor developmental delay, epilepsy, distinctive features, and delayed myelination. A new 5q31.2-q31.3 microdeletion that included PURA was identified in a patient with infantile spasms. Approximately 50% of patients with PURA -related neurodevelopmental disorders exhibited epilepsy regardless of whether they harbor a 5q31.3 deletion or PURA mutation. Patients with the 5q31...
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29602144/weird-laughing-in-hyperekplexia-a-new-phenotype-associated-with-a-novel-mutation-in-the-glra1-gene
#5
Zhi Huang, Yajun Lian, Hongliang Xu, Haifeng Zhang
Hyperekplexia (HPX) or startle disease is a rare hereditary neurological disorder characterized by generalized stiffness, excessive startle reflex to unexpected stimuli and a short period of generalized stiffness following the startle response, and can be complicated by umbilical or inguinal hernia, developmental delay and apnea spell. HPX is caused mainly by mutations in the GLRA1 gene, and has a good response to clonazepam. In this short communication we describe an 11-year-old girl with excessive startle reflex, weird laughing and developmental delay since early infancy...
March 20, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29575949/detailed-magnetic-resonance-imaging-mri-analysis-in-infantile-spasms
#6
Chellamani Harini, Sonal Sharda, Ann Marie Bergin, Annapurna Poduri, Christopher J Yuskaitis, Jurriaan M Peters, Kshitiz Rakesh, Kush Kapur, Phillip L Pearl, Sanjay P Prabhu
PURPOSE: To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile spasms, correlate them to clinical characteristics, and describe repeat imaging findings. METHODS: A retrospective review of infantile spasm patients was conducted, classifying abnormal MRI into developmental, acquired, and nonspecific subgroups. RESULTS: MRIs were abnormal in 52 of 71 infantile spasm patients (23 developmental, 23 acquired, and 6 nonspecific) with no correlation to the clinical infantile spasm characteristics...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29547159/addition-of-pyridoxine-to-prednisolone-in-the-treatment-of-infantile-spasms-a-pilot-randomized-controlled-trial
#7
Vedavathi Kunnanayaka, Puneet Jain, Suvasini Sharma, Anju Seth, Satinder Aneja
Background: West syndrome is a catastrophic epilepsy syndrome characterized by infantile spasms, hypsarrhythmia, and developmental arrest or regression. Aim: The aim of this study was to explore the role of pyridoxine in the management of infantile spasms. Setting and Design: This was a pilot, randomized, open-label trial conducted at a tertiary level hospital from November 2012 to March 2014. Materials and Methods: Children aged 3 months to 3 years presenting with infantile spasms in clusters (at least 1 cluster/day) with hypsarrhythmia or its variants on electroencephalogram (EEG) were enrolled...
March 2018: Neurology India
https://www.readbyqxmd.com/read/29547150/infantile-spasms-the-quest-for-the-most-effective-medical-management
#8
EDITORIAL
Rashmi Kumar
No abstract text is available yet for this article.
March 2018: Neurology India
https://www.readbyqxmd.com/read/29547149/role-of-pyridoxine-in-the-management-of-infantile-spasms
#9
EDITORIAL
Sangeeta Ravat, Mansi Shah
No abstract text is available yet for this article.
March 2018: Neurology India
https://www.readbyqxmd.com/read/29538625/protein-instability-haploinsufficiency-and-cortical-hyper-excitability-underlie-stxbp1-encephalopathy
#10
Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhage
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. We characterized the cellular deficits for an allelic series of seven STXBP1 mutations and developed four mouse models that recapitulate the abnormal EEG activity and cognitive aspects of human STXBP1-encephalopathy. Disease-causing STXBP1 variants supported synaptic transmission to a variable extent on a null background, but had no effect when overexpressed on a heterozygous background...
March 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29525400/safety-and-effectiveness-of-surgery-for-epilepsy-in-children-experience-of-a-tertiary-hospital-in-ecuador
#11
O Fernández-Concepción, M López Jiménez, C Valencia-Calderón, A Calderón-Valdivieso, A Recasén-Linares, L Reyes-Haro, C Vásquez-Ham
INTRODUCTION: There is sufficient evidence on the usefulness of surgery as a therapeutic alternative for patients with drug-resistant epilepsy; however this treatment is underutilized, especially in developing countries. METHODS: We describe the outcomes of epilepsy surgery in 27 paediatric patients at Hospital Baca Ortiz in Quito, Ecuador. Our analysis considered the following variables: reduction in seizure frequency, surgery outcome according to the Engel classification, improvement in quality of life, and serious complications due to surgery...
March 7, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29518120/why-west-comparisons-of-clinical-genetic-and-molecular-features-of-infants-with-and-without-spasms
#12
Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, Russell P Saneto, Elaine C Wirrell, Jason Coryell, Catherine J Chu, John R Mytinger, William D Gaillard, Ignacio Valencia, Kelly G Knupp, Tobias Loddenkemper, Joseph E Sullivan, Annapurna Poduri, John J Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B Dobyns, Madhuri Hegde
Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical, etiological, and molecular-genetic factors preferentially predisposing to spasms. We compared ages, clinical etiologies, and associated-genes between spasms and non-spasms groups in a multicenter cohort of 509 infants (<12months) with newly-diagnosed epilepsy...
2018: PloS One
https://www.readbyqxmd.com/read/29473152/white-matter-spongiosis-with-vigabatrin-therapy-for-infantile-spasms
#13
Phillip L Pearl, Annapurna Poduri, Sanjay P Prabhu, Chellamani Harini, Richard Goldstein, Richard M Atkinson, Dawna Armstrong, Hannah Kinney
The histopathology, "white matter spongiosis," defined by electron microscopy (EM) as "intramyelinic edema," has been associated with vigabatrin therapy in various animal models, but its role or significance in clinical studies is unknown. We conducted a neuropathological examination on a 27-month-old boy with bilateral polymicrogyria and epilepsy after sudden unexpected death in epilepsy (SUDEP). The patient was initiated on vigabatrin at 4 months of age, which controlled infantile spasms, and was continued as maintenance therapy...
February 23, 2018: Epilepsia
https://www.readbyqxmd.com/read/29441456/knowledge-attitude-and-practice-kap-study-of-pediatricians-on-infantile-spasms
#14
Vamsi Krishna Vaddi, Jitendra Kumar Sahu, Sumeet R Dhawan, Renu Suthar, Naveen Sankhyan
OBJECTIVE: To investigate the knowledge, attitude, and practice of Infantile Spasms among pediatricians. METHODS: A survey was carried out among pediatricians serving in Punjab, Haryana, Chandigarh, Himachal Pradesh and Delhi. The survey was done by Survey Monkey Software through emails by using a structured questionnaire between July 2016 and December 2017. RESULTS: A total of 236 pediatricians responded to the survey. Most of the respondents (95...
February 14, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29429466/-recurrent-convulsion-and-pulmonary-infection-complicated-by-psychomotor-retardation-in-an-infant
#15
Juan Xiong, Jing Peng, Hao-Lin Duan, Chen Chen, Xiao-Le Wang, Shi-Meng Chen, Fei Yin
A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29410512/clinical-and-molecular-characteristics-of-newly-reported-mitochondrial-disease-entity-caused-by-biallelic-pars2-mutations
#16
Elżbieta Ciara, Dariusz Rokicki, Michal Lazniewski, Hanna Mierzewska, Elżbieta Jurkiewicz, Monika Bekiesińska-Figatowska, Dorota Piekutowska-Abramczuk, Katarzyna Iwanicka-Pronicka, Edyta Szymańska, Piotr Stawiński, Joanna Kosińska, Agnieszka Pollak, Maciej Pronicki, Dariusz Plewczyński, Rafał Płoski, Ewa Pronicka
Most of the 19 mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs) involved in mitochondrial protein synthesis are already linked to specific entities, one of the exceptions being PARS2 mutations for which pathogenic significance is not finally validated. The aim of the study was to characterize the PARS2- related phenotype.Three siblings with biallelic PARS2 mutations presented from birth with infantile spasms, secondary microcephaly, and similar facial dysmorphy. Mental development was deeply impaired with speech absence and no eye contact...
February 6, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29396367/rp-hplc-method-for-simultaneous-estimation-of-vigabatrin-gamma-aminobutyric-acid-and-taurine-in-biological-samples
#17
Anitha Police, Vijay Kumar Shankar, S Narasimha Murthy
Vigabatrin is used as first line drug in treatment of infantile spasms for its potential benefit overweighing risk of causing permanent peripheral visual field defects and retinal damage. Chronic administration of vigabatrin in rats has demonstrated these ocular events are result of GABA accumulation and depletion of taurine levels in retinal tissues. In vigabatrin clinical studies taurine plasma level is considered as biomarker for studying structure and function of retina. The analytical method is essential to monitor taurine levels along with vigabatrin and GABA...
January 7, 2018: Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
https://www.readbyqxmd.com/read/29381910/somatic-kras-mutation-in-an-infant-with-linear-nevus-sebaceous-syndrome-associated-with-lymphatic-malformations-a-case-report-and-literature-review
#18
Jiang Lihua, Gao Feng, Mao Shanshan, Xu Jialu, Jiang Kewen
RATIONALE: Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). PATIENT CONCERNS: A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasms, mental retardation, skull dysplasia, ocular abnormalities, congenital atrial septal defect, and LMs...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29381352/design-and-mechanism-of-s-3-amino-4-difluoromethylenyl-cyclopent-1-ene-1-carboxylic-acid-a-highly-potent-%C3%AE-aminobutyric-acid-aminotransferase-inactivator-for-the-treatment-of-addiction
#19
Jose I Juncosa, Kenji Takaya, Hoang V Le, Matthew J Moschitto, Pathum M Weerawarna, Romila Mascarenhas, Dali Liu, Stephen L Dewey, Richard B Silverman
γ-Aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the central nervous system. Inhibition of GABA aminotransferase (GABA-AT), a pyridoxal 5'-phosphate (PLP)-dependent enzyme that degrades GABA, has been established as a possible strategy for the treatment of substance abuse. The raised GABA levels that occur as a consequence of this inhibition have been found to antagonize the rapid release of dopamine in the ventral striatum (nucleus accumbens) that follows an acute challenge by an addictive substance...
January 30, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29362620/compare-of-the-west-syndrome-with-other-syndromes-in-the-epileptic-encephalopathy-kosovo-experience
#20
Naim Zeka, Abdurrahim Gërguri, Ramush Bejiqi, Ragip Retkoceri, Armend Vuciterna
BACKGROUND: West Syndrome (WS) represents as a specific epileptic encephalopathy characterised with a unique type of attacks, called infantile spasms, severe forms of abnormalities in electroencephalographic (EEG) records as a hypsarythmias and delays in the psychomotoric development. The characteristics of the disease, mostly affecting male gender, are infantile spasms and typical findings in EEG as a hypsarythmia. Infantile spasms are a consequence of many factors in the undeveloped brain...
December 15, 2017: Open Access Macedonian Journal of Medical Sciences
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