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Infantile spasms

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https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#1
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29731400/treatment-of-infantile-spasms-by-pediatric-neurologists-in-japan
#2
Shin-Ichiro Hamano, Toshisaburo Nagai, Ryuki Matsuura, Yuko Hirata, Satoru Ikemoto, Atsuko Oba, Erika Hiwatari
OBJECTIVE: To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS: We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated training facility for epilepsy in Japan. A questionnaire was used to investigate use of adrenocorticotropic hormone (ACTH) therapy including daily dose, treatment duration, and tapering off period, and preferred first to fifth-line treatment choices...
May 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29713308/-in-vivo-multimodal-magnetic-resonance-imaging-changes-after-n-methyl-d-aspartate-triggered-spasms-in-infant-rats
#3
Minyoung Lee, Mi-Sun Yum, Dong-Cheol Woo, Woo-Hyun Shim, Tae-Sung Ko, Libor Velíšek
Objective: Despite the serious neurodevelopmental sequelae of epileptic encephalopathy during infancy, the pathomechanisms involved remain unclear. To find potential biomarkers that can reflect the pathogenesis of epileptic encephalopathy, we explored the neurometabolic and microstructural sequelae after infantile spasms using a rat model of infantile spasms and in vivo magnetic resonance imaging techniques. Methods: Rats prenatally exposed to betamethasone were subjected to three rounds of intraperitoneal N -methyl-d-aspartate (NMDA) triggering of spasms or received saline injections (controls) on postnatal days (P) 12, 13, and 15...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29700769/clinical-characteristics-of-two-cohorts-of-infantile-spasms-response-to-pyridoxine-or-topiramate-monotherapy
#4
Jiao Xue, Ping Qian, Hui Li, Ye Wu, Hui Xiong, Yue-Hua Zhang, Zhi-Xian Yang
BACKGROUND: Infantile spasms (IS) was an epileptic disease with varied treatment widely among clinicians. Here, we aimed to compare and analyze the clinical characteristics of IS response to pyridoxine or topiramate monotherapy (TPM control IS). METHODS: The clinical manifestations, treatment processes and outcomes were analyzed in 11 pyridoxine responsive IS and 17 TPM-control IS. RESULTS: Of the 11 patients with pyridoxine responsive IS, nine were cryptogenic/idiopathic...
April 26, 2018: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/29687739/vigabatrin-for-epileptic-spasms-and-tonic-seizures-in-tuberous-sclerosis-complex
#5
Emma A van der Poest Clement, Mustafa Sahin, Jurriaan M Peters
Vigabatrin is recommended as first-line treatment for infantile spasms in tuberous sclerosis complex (TSC), but other indications in children with tuberous sclerosis complex are less known. We retrospectively reviewed 201 children with tuberous sclerosis complex, and identified 21 children older than 1 year started on vigabatrin for any indication and with sufficient follow-up data. The indication for vigabatrin was epileptic spasms (n = 13), tonic seizures (n = 5), both (n = 2), and status epilepticus (n = 1)...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29687029/de-novo-kcnq2-mutation-in-one-case-of-epilepsy-of-infancy-with-migrating-focal-seizures-that-evolved-to-infantile-spasms
#6
Haolin Duan, Jing Peng, Miriam Kessi, Fei Yin
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29671077/infantile-spasms-have-we-made-progress
#7
REVIEW
Sarah Aminoff Kelley, Kelly G Knupp
PURPOSE OF THE REVIEW: The care of children with infantile spasms is full of areas of ambiguity, despite practice parameters and randomized trials. This review is to update the current care of children with infantile spasms. RECENT FINDINGS: Several recent studies have generated new data to guide management including a randomized trial supporting combination therapy of hormone treatment and vigabatrin as an initial treatment for infantile spasms. Studies have suggested that we are not consistent in our recognition of hypsarrhythmia, while additional studies suggest that the presence or absence of this pattern may not have any predictive value...
April 19, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29670486/utilizing-animal-models-of-infantile-spasms
#8
Chris G Dulla
Infantile spasms are a devastating epileptic encephalopathy characterized by early life spasms and later seizures. Clinical outcomes of infantile spasms are poor and therapeutic options are limited with significant adverse effects. Therefore, new strategies to treat infantile spasms are of the utmost importance. Animals models of infantile spasms are a critical component of developing new therapies. Here, we review current chronic animal models of infantile spasms and consider future advances that may help improve patient care, as well as our scientific understanding of this debilitating disease...
March 2018: Epilepsy Currents
https://www.readbyqxmd.com/read/29667327/novel-west-syndrome-candidate-genes-in-a-chinese-cohort
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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