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Infantile spasms

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https://www.readbyqxmd.com/read/27908655/neuroimaging-abnormalities-in-a-child-with-infantile-spasms-on-high-dose-vigabatrin
#1
Lisa R Sun, Thangamadhan Bosemani, Constance L Smith-Hicks
No abstract text is available yet for this article.
October 13, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27896282/a-patient-with-lissencephaly-developmental-delay-and-infantile-spasms-due-to-de-novo-heterozygous-mutation-of-kif2a
#2
Guoling Tian, Ana G Cristancho, Holly A Dubbs, Grant T Liu, Nicholas J Cowan, Ethan M Goldberg
BACKGROUND: Microtubules are dynamic polymers of α/β tubulin heterodimers that play a critical role in cerebral cortical development, by regulating neuronal migration, differentiation, and morphogenesis. Mutations in genes that encode either α- or β-tubulin or a spectrum of proteins involved in the regulation of microtubule dynamics lead to clinically devastating malformations of cortical development, including lissencephaly. METHODS: This is a single case report or a patient with lissencephaly, developmental delay, nystagmus, persistent hyperplastic primary vitreous, and infantile spasms, and undertook a neurogenetic workup...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27878438/interdependence-of-clinical-factors-predicting-cognition-in-children-with-tuberous-sclerosis-complex
#3
I E Overwater, B J H Verhaar, H F Lingsma, G C B Bindels-de Heus, A M W van den Ouweland, M Nellist, L W Ten Hoopen, Y Elgersma, H A Moll, M C Y de Wit
Cognitive development in patients with tuberous sclerosis complex is highly variable. Predictors in the infant years would be valuable to counsel parents and to support development. The aim of this study was to confirm factors that have been reported to be independently correlated with cognitive development. 102 patients included in this study were treated at the ENCORE-TSC expertise center of the Erasmus Medical Center-Sophia Children's Hospital. Data from the first 24 months of life were used, including details on epilepsy, motor development and mutation status...
November 22, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27864823/aberrant-mtor-signaling-and-disrupted-autophagy-the-missing-link-in-potential-vigabatrin-associated-ocular-toxicity
#4
K R Vogel, G R Ainslie, P L Pearl, K M Gibson
Vigabatrin (VGB; γ-vinylGABA) is a unique antiepileptic directly elevating CNS GABA via inactivation of the GABA metabolic enzyme GABA-transaminase. VGB is effective in treating infantile spasms, a rare seizure disorder associated with significant morbidity. The potential for unexplained bilateral constriction of the visual field associated with VGB intervention can severely limit its temporal utility. Removal of this potential adverse effect with adjuvant intervention(s) would represent a significant advance in epilepsy therapeutics...
November 19, 2016: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/27861786/infantile-spasms-and-encephalopathy-without-preceding-neonatal-seizures-caused-by-kcnq2-r198q-a-gain-of-function-variant
#5
John J Millichap, Francesco Miceli, Michela De Maria, Cynthia Keator, Nishtha Joshi, Baouyen Tran, Maria Virginia Soldovieri, Paolo Ambrosino, Vandana Shashi, Mohamad A Mikati, Edward C Cooper, Maurizio Taglialatela
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-onset epilepsies, ranging from self-limiting forms to severe epileptic encephalopathy. Most KCNQ2 pathogenic variants cause loss-of-function, whereas few increase channel activity (gain-of-function). We herein provide evidence for a new phenotypic and functional profile in KCNQ2-related epilepsy: infantile spasms without prior neonatal seizures associated with a gain-of-function gene variant. With use of an international registry, we identified four unrelated patients with the same de novo heterozygous KCNQ2 c...
November 9, 2016: Epilepsia
https://www.readbyqxmd.com/read/27858369/cerebrotendinous-xanthomatosis-presenting-with-infantile-spasms-and-intellectual-disability
#6
Austin Larson, James D Weisfeld-Adams, Tim A Benke, Penelope E Bonnen
Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism leading to progressive multisystem disease. Symptoms often begin in the first decade of life with chronic diarrhea, cataracts, developmental delay, intellectual disability, and cerebellar or pyramidal dysfunction. Later manifestations include tendon xanthomas, polyneuropathy, and abnormal neuroimaging. Pathogenic biallelic variants in CYP27A1 leading to compromised function of sterol 27-hydroxylase result in accumulation of detectable toxic intermediates of bile acid synthesis rendering both genetic and biochemical testing effective diagnostic tools...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27852007/apc-conditional-knock-out-mouse-is-a-model-of-infantile-spasms-with-elevated-neuronal-%C3%AE-catenin-levels-neonatal-spasms-and-chronic-seizures
#7
Antonella Pirone, Jon Alexander, Lauren A Lau, David Hampton, Andrew Zayachkivsky, Amy Yee, Audrey Yee, Michele H Jacob, Chris G Dulla
Infantile spasms (IS) are a catastrophic childhood epilepsy syndrome characterized by flexion-extension spasms during infancy that progress to chronic seizures and cognitive deficits in later life. The molecular causes of IS are poorly defined. Genetic screens of individuals with IS have identified multiple risk genes, several of which are predicted to alter β-catenin pathways. However, evidence linking malfunction of β-catenin pathways and IS is lacking. Here, we show that conditional deletion in mice of the adenomatous polyposis coli gene (APC cKO), the major negative regulator of β-catenin, leads to excessive β-catenin levels and multiple salient features of human IS...
November 13, 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#8
X L Deng, F Yin, C L Zhang, Y P Ma, F He, L W Wu, J Peng
Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27798109/embryonic-forebrain-transcriptome-of-mice-with-polyalanine-expansion-mutations-in-the-arx-homeobox-gene
#9
Tessa Mattiske, Kristie Lee, Jozef Gecz, Gaelle Friocourt, Cheryl Shoubridge
The Aristaless related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in embryonic development. Mutations in ARX give rise to intellectual disability (ID), epilepsy and brain malformation syndromes. To capture the genetics and molecular disruptions that underpin the ARX-associated clinical phenotypes, we undertook a transcriptome wide RNASeq approach to analyse developing (12.5 dpc) telencephalon of mice modelling two recurrent polyalanine expansion mutations with different phenotypic severities in the ARX gene...
October 25, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27789573/a-de-novo-missense-mutation-of-gabrb2-causes-early-myoclonic-encephalopathy
#10
Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose
BACKGROUND: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we report a pathogenic mutation of an ion channel as a cause of EME for the first time. METHODS: Sequencing was performed for 214 patients with epileptic seizures using a gene panel with 109 genes that are known or suspected to cause epileptic seizures...
October 27, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27774450/effects-of-a-mutation-in-the-hspe1-gene-encoding-the-mitochondrial-co-chaperonin-hsp10-and-its-potential-association-with-a-neurological-and-developmental-disorder
#11
Anne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L Deignan, Hane Lee, Naghmeh Dorrani, Thomas J Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Peter Bross
We here report molecular investigations of a missense mutation in the HSPE1 gene encoding the HSP10 subunit of the HSP60/ HSP10 chaperonin complex that assists protein folding in the mitochondrial matrix. The mutation was identified in an infant who came to clinical attention due to infantile spasms at 3 months of age. Clinical exome sequencing revealed heterozygosity for a HSPE1 NM_002157.2:c.217C>T de novo mutation causing replacement of leucine with phenylalanine at position 73 of the HSP10 protein. This variation has never been observed in public exome sequencing databases or the literature...
2016: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/27770071/seizure-variables-and-their-relationship-to-genotype-and-functional-abilities-in-the-cdkl5-disorder
#12
Stephanie Fehr, Kingsley Wong, Richard Chin, Simon Williams, Nick de Klerk, David Forbes, Rahul Krishnaraj, John Christodoulou, Jenny Downs, Helen Leonard
OBJECTIVE: To investigate seizure outcomes and their relationships to genotype and functional abilities in individuals with the cyclin-dependent kinase-like-5 (CDKL5) disorder. METHODS: Using the International CDKL5 Disorder Database, we identified 172 cases with a pathogenic CDKL5 mutation. We categorized individual mutations into 4 groups based on predicted structural and functional consequences. Negative binomial regression was used to model the linear association between current seizure rate and mutation group, current level of assistance required to walk 10 steps, and the highest level of expressive communication used to convey refusal or request...
October 21, 2016: Neurology
https://www.readbyqxmd.com/read/27764735/diagnosing-infantile-spasms-accuracy-of-the-internet
#13
Amara Krag, Gregory L Holmes
Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27744268/growing-up-with-down-syndrome-development-from-6-months-to-10-7-years
#14
Jan Pieter Marchal, Heleen Maurice-Stam, Bregje A Houtzager, Susanne L Rutgers van Rozenburg-Marres, Kim J Oostrom, Martha A Grootenhuis, A S Paul van Trotsenburg
BACKGROUND: We analysed developmental outcomes from a clinical trial early in life and its follow-up at 10.7 years in 123 children with Down syndrome. AIMS: To determine 1) strengths and weaknesses in adaptive functioning and motor skills at 10.7 years, and 2) prognostic value of early-life characteristics (early developmental outcomes, parental and child characteristics, and comorbidity) for later intelligence, adaptive functioning and motor skills. METHODS AND PROCEDURES: We used standardized assessments of mental and motor development at ages 6, 12 and 24 months, and of intelligence, adaptive functioning and motor skills at 10...
October 13, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27680485/vigabatrin-therapy-for-infantile-spasms-in-a-case-of-cardiofaciocutaneous-syndrome-with-cardiac-hypertrophy-developing-during-adrenocorticotropic-hormone-treatment
#15
Takayuki Hatori, Yohei Sugiyama, Shinichiro Yamashita, Yuka Hirakubo, Kazuhito Nonaka, Ko Ichihashi
In a patient with cardiofaciocutaneous syndrome complicated by intractable infantile spasms (West syndrome), cardiac hypertrophy developed during adrenocorticotropic hormone treatment. Various types of antiepileptic drugs, intravenous immunoglobulin, thyrotropin releasing hormone, and a ketogenic diet were ineffective in this case. However, vigabatrin both decreased clinical seizures and improved electroencephalogram findings. Although vigabatrin has not been approved for use in Japan, the results in the present case suggest that this drug should be considered as an alternative therapy for cases of infantile spasms associated with syndromes involving cardiomyopathy or its potential risk factors, such as cardiofaciocutaneous syndrome...
2016: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/27668180/a-case-report-on-the-efficacy-of-vigabatrin-analogue-1s-3s-3-amino-4-difluoromethylenyl-1-cyclopentanoic-acid-cpp-115-in-a-patient-with-infantile-spasms
#16
Kyra Doumlele, Erin Conway, Julie Hedlund, Patricia Tolete, Orrin Devinsky
West Syndrome is characterized by infantile spasms, a hypsarrhythmic electroencephalogram (EEG) pattern, and a poor neurodevelopmental prognosis. First-line treatments include adrenocorticotrophic hormone (ACTH) and vigabatrin, but adverse effects often limit their use. CPP-115 is a high-affinity vigabatrin analogue developed to increase therapeutic potency and to limit retinal toxicity. Here, we present a child treated with CPP-115 through an investigational new drug protocol who experienced a marked reduction of seizures with no evidence of retinal dysfunction...
2016: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/27615012/response-to-second-treatment-after-initial-failed-treatment-in-a-multicenter-prospective-infantile-spasms-cohort
#17
Kelly G Knupp, Erin Leister, Jason Coryell, Katherine C Nickels, Nicole Ryan, Elizabeth Juarez-Colunga, William D Gaillard, John R Mytinger, Anne T Berg, John Millichap, Douglas R Nordli, Sucheta Joshi, Renée A Shellhaas, Tobias Loddenkemper, Dennis Dlugos, Elaine Wirrell, Joseph Sullivan, Adam L Hartman, Eric H Kossoff, Zachary M Grinspan, Lorie Hamikawa
OBJECTIVE: Infantile spasms (IS) represent a severe epileptic encephalopathy presenting in the first 2 years of life. Recommended first-line therapies (hormonal therapy or vigabatrin) often fail. We evaluated response to second treatment for IS in children in whom the initial therapy failed to produce both clinical remission and electrographic resolution of hypsarhythmia and whether time to treatment was related to outcome. METHODS: The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of IS...
November 2016: Epilepsia
https://www.readbyqxmd.com/read/27613244/do-the-exome-a-case-of-williams-beuren-syndrome-with-severe-epilepsy-due-to-a-truncating-de-novo-variant-in-gabra1
#18
Bernt Popp, Regina Trollmann, Christian Büttner, Almuth Caliebe, Christian T Thiel, Ulrike Hüffmeier, André Reis, Christiane Zweier
Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27586246/the-changing-face-of-dietary-therapy-for-epilepsy
#19
REVIEW
Ludovica Pasca, Valentina De Giorgis, Joyce Ann Macasaet, Claudia Trentani, Anna Tagliabue, Pierangelo Veggiotti
UNLABELLED: Ketogenic diet is an established and effective non-pharmacologic treatment for drug-resistant epilepsy. Ketogenic diet represents the treatment of choice for GLUT-1 deficiency syndrome and pyruvate dehydrogenase complex deficiency. Infantile spasms, Dravet syndrome and myoclonic-astatic epilepsy are epilepsy syndromes for which ketogenic diet should be considered early in the therapeutic pathway. Recently, clinical indications for ketogenic diet have been increasing, as there is emerging evidence regarding safety and effectiveness...
October 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27582501/prognostic-utility-of-clinical-epilepsy-severity-score-versus-pretreatment-hypsarrhythmia-scoring-in-children-with-west-syndrome
#20
Rachna Sehgal, Sheffali Gulati, Savita Sapra, Manjari Tripathi, Ravinder Mohan Pandey, Madhulika Kabra
This cross-sectional study assessed the impact of clinical epilepsy severity and pretreatment hypsarrhythmia severity on epilepsy and cognitive outcomes in treated children with West syndrome. Thirty-three children, aged 1 to 5 years, with infantile spasms were enrolled if pretreatment EEG records were available, after completion of ≥1 year of onset of spasms. Neurodevelopment was assessed by Development Profile 3 and Gross Motor Function Classification System. Epilepsy severity in the past 1 year was determined by the Early Childhood Epilepsy Severity Score (E-Chess)...
August 31, 2016: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
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