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Infantile spasm

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https://www.readbyqxmd.com/read/29905153/chromosome-14q11-2-q21-1-duplication-a-rare-cause-of-west-syndrome
#1
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
https://www.readbyqxmd.com/read/29897010/congenital-zika-syndrome-and-infantile-spasms-case-series-study
#2
Lucas V Alves, Maria J G Mello, Patrícia G Bezerra, João Guilherme Bezerra Alves
Recently described, the congenital Zika syndrome caused by the Zika virus has many features of other congenital infections. This case series study reports 22 infants with congenital Zika syndrome in Brazil who developed infantile spasms during their first year of life. The median age of infantile spasms onset was 4.3 (±1.4) months and ranged from 1 to 7 months. Neurologic evaluation showed that all 22 children presented severe impairment of neuropsychomotor development. A total of 18 infants had an interictal hypsarrhythmia electroencephalogram (EEG) pattern...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29881807/secular-changes-in-severity-of-intellectual-disability-in-tuberous-sclerosis-complex-a-reflection-of-improved-identification-and-treatment-of-epileptic-spasms
#3
Charlotte Tye, Laura E Thomas, Julian R Sampson, Julia Lewis, Finbar O'Callaghan, John R W Yates, Patrick F Bolton
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in TSC1 or TSC2 . Epilepsy occurs in 80%-90% of affected individuals during their lifetime, and up to one-third of children with TSC will develop epileptic (infantile) spasms, for which vigabatrin has been shown to be particularly effective. Epilepsy severity and epileptic spasms are consistent markers of risk for the development of intellectual impairment in TSC. Although previous studies demonstrate a bimodal distribution of intellectual ability in TSC, recent findings suggest a unimodal distribution, which may reflect a change in IQ distribution over time...
June 2018: Epilepsia Open
https://www.readbyqxmd.com/read/29881795/metabolic-etiologies-in-west-syndrome
#4
REVIEW
Seda Salar, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS...
June 2018: Epilepsia Open
https://www.readbyqxmd.com/read/29862876/validating-an-algorithm-to-identify-patients-with-infantile-spasms-using-medical-claims
#5
Ling Wang, Shannon Yarosz, Hosain Aghamoosa, Zachary Grinspan, Anup D Patel
An infantile spasm is a brief seizure type that is characteristic of West syndrome. Many infants present with infantile spasms between 3-12 months of age. Early diagnosis and proper treatment of patients with infantile spasms can lead to improved clinical outcomes. However, proper identification of these patients using claims data with validation has not been performed. The authors developed and tested several algorithms using claims data. Claims data consisted of using International Classification of Disease (ICD), Current Procedural Terminology (CPT), and prescription codes...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29858110/an-episode-of-acute-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion-followed-by-hemiplegia-and-intractable-epilepsy-observed-in-a-patient-with-a-novel-frameshift-mutation-in-hnrnpu
#6
Shino Shimada, Hirokazu Oguni, Yui Otani, Aiko Nishikawa, Susumu Ito, Kaoru Eto, Tomoyuki Nakazawa, Keiko Yamamoto-Shimojima, Jun-Ichi Takanashi, Satoru Nagata, Toshiyuki Yamamoto
Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in HNRNPU was identified in a 5-year-old boy with developmental delay associated with Rett-like features including stereotypic hand movements and respiratory abnormalities with episode of apnea and hyperpnea followed by falling...
May 29, 2018: Brain & Development
https://www.readbyqxmd.com/read/29844171/dynamic-action-potential-clamp-predicts-functional-separation-in-mild-familial-and-severe-de-novo-forms-of-scn2a-epilepsy
#7
Géza Berecki, Katherine B Howell, Yadeesha H Deerasooriya, Maria Roberta Cilio, Megan K Oliva, David Kaplan, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou
De novo variants in SCN2A developmental and epileptic encephalopathy (DEE) show distinctive genotype-phenotype correlations. The two most recurrent SCN2A variants in DEE, R1882Q and R853Q, are associated with different ages and seizure types at onset. R1882Q presents on day 1 of life with focal seizures, while infantile spasms is the dominant seizure type seen in R853Q cases, presenting at a median age of 8 months. Voltage clamp, which characterizes the functional properties of ion channels, predicted gain-of-function for R1882Q and loss-of-function for R853Q...
May 29, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29785989/cerebral-visual-impairment-in-children-causes-and-associated-ophthalmological-problems
#8
Niranjan Pehere, Pratik Chougule, Gordon N Dutton
Purpose: The aim of this study is to identify common causes, associated ophthalmological abnormalities, and systemic comorbidities in children in Andhra Pradesh, India, with cerebral visual impairment (CVI). Methods: A retrospective review of case records of all children aged <16 years with diagnosis of CVI seen between January 2016 and December 2016 was carried out. Data were collected for their age, gender, cause of CVI, refraction, accommodation, anterior and posterior segment examination findings, and systemic problems...
June 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#9
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
#10
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
#11
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
#12
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
#13
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)...
July 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
#14
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
#15
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
#16
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
#17
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
#18
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...
May 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
#19
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
#20
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
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