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infantile epilepsy

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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29132468/-benign-infantile-convulsions-associated-with-mild-gastroenteritis-a-clinical-analysis-and-follow-up-study
#2
Chao-Chao Xue, Ya-Feng Liang, Guo-Quan Pan, Chang-Chong Li
OBJECTIVE: To study the clinical features and prognosis of benign infantile convulsions associated with mild gastroenteritis (BICE). METHODS: A retrospective analysis was performed for the clinical data of 436 children with BICE, and among these children, 206 were followed up for 1.5 to 7 years. Some parents were invited to complete the Weiss Functional Defect Scale to evaluate the long-term social function. RESULTS: The peak age of onset of BICE was 13-24 months, and BICE had a higher prevalence rate in September to February of the following year...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29129154/predictors-of-drug-resistant-epilepsy-in-tuberous-sclerosis-complex
#3
Anna Jeong, Jo Anne Nakagawa, Michael Wong
Utilizing the multicenter TSC (tuberous sclerosis complex) Natural History Database including 2034 subjects, this study aimed to identify predictors of drug-resistant epilepsy in TSC. Basic epilepsy data were available for 1965 individuals in the database. Supplemental data were further collected from 1546 of these subjects through directed site queries, addressing additional epilepsy characteristics including the presence of drug-resistant epilepsy, therapies trialed, and outcomes of specific therapies. Epilepsy was reported in 86...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29119560/prevalence-and-risk-factors-for-autism-spectrum-disorder-in-epilepsy-a-systematic-review-and-meta-analysis
#4
REVIEW
Lauren Strasser, Michelle Downes, Jane Kung, J Helen Cross, Michelle De Haan
AIM: To assess the prevalence and risk factors for autism spectrum disorder (ASD) in epilepsy, and to better understand the relationship and comorbidity between these disorders. METHOD: PsychINFO and PubMed were searched for articles published in the past 15 years that examined the prevalence of ASD in individuals with epilepsy. RESULTS: A total of 19 studies were found with a pooled ASD prevalence of 6.3% in epilepsy. When divided by type, the risks of ASD for general epilepsy, infantile spasms, focal seizures, and Dravet syndrome were 4...
November 9, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29105055/the-impact-of-hypsarrhythmia-on-infantile-spasms-treatment-response-observational-cohort-study-from-the-national-infantile-spasms-consortium
#5
Scott T Demarest, Renée A Shellhaas, William D Gaillard, Cynthia Keator, Katherine C Nickels, Shaun A Hussain, Tobias Loddenkemper, Anup D Patel, Russell P Saneto, Elaine Wirrell, Iván Sánchez Fernández, Catherine J Chu, Zachary Grinspan, Courtney J Wusthoff, Sucheta Joshi, Ismail S Mohamed, Carl E Stafstrom, Cynthia V Stack, Elissa Yozawitz, Judith S Bluvstein, Rani K Singh, Kelly G Knupp
OBJECTIVE: The multicenter National Infantile Spasms Consortium prospective cohort was used to compare outcomes and phenotypic features of patients with infantile spasms with and without hypsarrhythmia. METHODS: Patients aged 2 months to 2 years were enrolled prospectively with new-onset infantile spasms. Treatment choice and categorization of hypsarrhythmia were determined clinically at each site. Response to therapy was defined as resolution of clinical spasms (and hypsarrhythmia if present) without relapse 3 months after initiation...
November 3, 2017: Epilepsia
https://www.readbyqxmd.com/read/29073472/epilepsy-may-be-the-major-risk-factor-of-mental-retardation-in-children-with-tuberous-sclerosis-a-retrospective-cohort-study
#6
Yang-Yang Wang, Ling-Yu Pang, Shu-Fang Ma, Meng-Na Zhang, Li-Ying Liu, Li-Ping Zou
Mental retardation (MR) is one of the most common cognitive comorbidities in children with tuberous sclerosis, and there are enormous studies about its risk factors. The genetic difference and the severity of epilepsy are the two main factors, but their weight in the occurrence of MR is still unclear. Two hundred twenty-three patients with tuberous sclerosis who received intelligence assessment, genetic mutation analysis, and the epilepsy severity assessment were included in our study. Genotype-neurocognitive phenotype correlations and epilepsy-neurocognitive phenotype correlations were analyzed by binary logistic regression analysis...
October 23, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29064093/focal-cortical-malformations-in-children-with-early-infantile-epilepsy-and-pcdh19-mutations-case-report
#7
Mary Kurian, Christian M Korff, Emmanuelle Ranza, Andrea Bernasconi, Anja Lübbig, Srishti Nangia, Gian Paolo Ramelli, Gabriele Wohlrab, Douglas R Nordli, Thomas Bast
In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients...
October 24, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29053735/characterization-of-the-first-knock-out-aldh7a1-zebrafish-model-for-pyridoxine-dependent-epilepsy-using-crispr-cas9-technology
#8
Nikita Zabinyakov, Garrett Bullivant, Feng Cao, Matilde Fernandez Ojeda, Zheng Ping Jia, Xiao-Yan Wen, James J Dowling, Gajja S Salomons, Saadet Mercimek-Andrews
Pyridoxine dependent epilepsy (PDE) is caused by likely pathogenic variants in ALDH7A1 (PDE-ALDH7A1) and inherited autosomal recessively. Neurotoxic alpha-amino adipic semialdehyde (alpha-AASA), piperideine 6-carboxylate and pipecolic acid accumulate in body fluids. Neonatal or infantile onset seizures refractory to anti-epileptic medications are clinical features. Treatment with pyridoxine, arginine and lysine-restricted diet does not normalize neurodevelopmental outcome or accumulation of neurotoxic metabolites...
2017: PloS One
https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#9
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29048727/mutations-of-kif5c-cause-a-neurodevelopmental-disorder-of-infantile-onset-epilepsy-absent-language-and-distinctive-malformations-of-cortical-development
#10
Savannah Michels, Kimberly Foss, Kaylee Park, Katie Golden-Grant, Russell Saneto, Jonathan Lopez, Ghayda M Mirzaa
The clinical diagnosis of malformations of cortical development (MCDs) is often challenging due to the complexity of the brain malformation by neuroimaging, the rarity of individual malformation syndromes, and the rapidly evolving genetic landscape of these disorders facilitated with the use of Next Generation Sequencing (NGS) methods. While the clinical and molecular diagnosis of severe cortical malformations, such as classic lissencephaly, is often straightforward, the diagnosis of more subtle and complex types of cortical malformations, such as pachygyria and polymicrogyria (PMG), can be more challenging due to limited knowledge regarding their genetic etiologies...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29045977/-clinical-and-genetic-characteristics-of-williams-beuren-syndrome-2-cases-report
#11
S Q Wang, Z X Yang, H Li
To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28988213/management-of-pneumatosis-intestinalis-in-children-over-the-age-of-6-months-a-conservative-approach
#12
Leel Nellihela, Mohamed Mutalib, David Thompson, Kammermeier Jochen, Manasvi Upadhyaya
BACKGROUND: Pneumatosis intestinalis (PI) is an uncommon and poorly understood condition. Although it can be an incidental finding in asymptomatic individuals, it can also be secondary to life-threatening bowel ischaemia and sepsis. In premature infants, it is a pathognomonic sign of necrotising enterocolitis. There is no consensus regarding management and long-term outcome of children with PI. AIM: Review of our experience of PI in children beyond the early infantile period...
October 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28987752/three-cases-of-kcnt1-mutations-malignant-migrating-partial-seizures-in-infancy-with-massive-systemic-to-pulmonary-collateral-arteries
#13
Yuki Kawasaki, Ichiro Kuki, Eiji Ehara, Yosuke Murakami, Shin Okazaki, Hisashi Kawawaki, Munetsugu Hara, Yoriko Watanabe, Shintaro Kishimoto, Kenji Suda, Hirotomo Saitsu, Naomichi Matsumoto
KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.
October 5, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28985901/systemic-manifestations-in-pyridox-am-ine-5-phosphate-oxidase-deficiency
#14
Réjean M Guerriero, Archana A Patel, Brian Walsh, Fiona M Baumer, Ankoor S Shah, Jurriaan M Peters, Lance H Rodan, Pankaj B Agrawal, Phillip L Pearl, Masanori Takeoka
OBJECTIVE: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency...
June 3, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28981930/-report-of-a-case-with-14q12-triplication-and-literature-review-for-foxg1-related-diseases
#15
Fangfang Wang, Rong Luo, Bin Zhou, Tao Yu, Xiaolu Chen
OBJECTIVE: To report on the first case with chromosome 14q12 triplication involving the FOXG1 gene. METHODS: The clinical, radiological and array-based comparative genomic hybridization (aCGH) data of a patient was analyzed, in addition with a literature review. RESULTS: The 9-year-old girl has suffered from severe psychomotor delay, infantile spasms, severe mental retardation, absent language, autistic spectrum disorders, impaired ambulation, poor functional hand use and microcephaly, which were considered as manifestation of FOXG1 related diseases...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28965491/compound-heterozygous-mutations-in-uba5-causing-early-onset-epileptic-encephalopathy-in-two-sisters
#16
Gudny A Arnadottir, Brynjar O Jensson, Sigurdur E Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P Kristjansson, Stefania Benonisdottir, Sigurjon A Gudjonsson, Gisli Masson, Gudmundur A Thorisson, Jona Saemundsdottir, Olafur Th Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson
BACKGROUND: Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M et al., Am J Hum Genet 99(3):683-694, 2016). UBA5 encodes an activating enzyme for a post-translational modification mechanism known as ufmylation, and is the first gene from the ufmylation pathway that is linked to disease...
October 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28954019/retinal-function-in-patients-with-the-neuronal-ceroid-lipofuscinosis-phenotype
#17
Elizabeth Maria Aparecida Barasnevicius Quagliato, Daniel Martins Rocha, Paula Yuri Sacai, Sung Song Watanabe, Solange Rios Salomão, Adriana Berezovsky
Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66...
July 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#18
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#19
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28873364/refractory-spasms-of-focal-onset-a-potentially-curable-disease-that-should-lead-to-rapid-surgical-evaluation
#20
Mathilde Chipaux, Georg Dorfmüller, Martine Fohlen, Nathalie Dorison, Marie-Astrid Metten, Olivier Delalande, Sarah Ferrand-Sorbets, Delphine Taussig
PURPOSE: Infantile spasms (IS) can occur as the only seizure type in children with surgically amenable epilepsies. Although early surgery has shown positive effects, little is known regarding outcomes. METHODS: We retrospectively reviewed all children with IS referred to our tertiary center between 2002 and 2014 and try to define factors of outcome. RESULTS: Sixty-eight children with focal onset seizures were referred: twenty children with a hemispheric implication and 48 with one or more lobes involved...
October 2017: Seizure: the Journal of the British Epilepsy Association
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