Results 51 to 60 of about 152,711 (286)

RARS2 mutations in a sibship with infantile spasms [PDF]

, 2016
Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum.
Bras, J, Clayton, P, Dawson, E, Forsyth, R, Guerreiro, R, Gunny, R, Kurian, MA, Lai, M, Mankad, K, McTague, A, Meyer, E, Mills, PB, Ngoh, A, Thornton, R   +13 more
core   +1 more source

Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response

Global Pediatric Health, 2019
Objectives. To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population ...
Dee Daniels CPNP, RN, MSN, Kelly Knupp MD, MSCS, Tim Benke MD, PhD, Kristine Wolter-Warmerdam PhD, ABD, MA, Maura Moran BA, Fran Hickey MD   +5 more
doaj   +1 more source

Short Course and Early Switch of Vigabatrin for Infantile spasms [PDF]

Annals of Child Neurology, 2020
Purpose Vigabatrin has proven efficacy in the treatment of infantile spasms, but it carries the risk of irreversible visual field constriction. The incidence of vigabatrin-induced visual field constriction seems to depend on the extent of vigabatrin ...
Hye Won Ryu, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim   +6 more
doaj   +1 more source

How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium [PDF]

, 2015
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111205/1/epi12951 ...
Allen, Berg, Carvill, Epilepsy Commission on Pediatric Epilepsy of the International League Against Epilepsy, Gaillard, Kamien, Liu, Michaud, Mulley, Osborne, Paciorkowski, Pellock, Sidenvall, Torrisi, Trevathan, Wong   +15 more
core   +1 more source

A Systematic Literature Review and Indirect Treatment Comparison of Efficacy of Repository Corticotropin Injection versus Synthetic Adrenocorticotropic Hormone for Infantile Spasms

Journal of Health Economics and Outcomes Research, 2021
# Background Infantile spasms is a rare disease characterized by distinct seizures and hypsarrhythmia. Adrenocorticotropic hormone (ACTH) is available as a natural product (repository corticotropin injection, [RCI]; Acthar® Gel) and as synthetic analogs.
Michael S. Duchowny, Ishveen Chopra, John Niewoehner, George J. Wan, Beth Devine   +4 more
doaj   +1 more source

Case Report: Neurodevelopmental Outcome in a Small-for-Gestational-Age Infant With Symptomatic Hyperinsulinemic Hypoglycemia, Gaze Preference, and Infantile Spasms

Frontiers in Endocrinology, 2022
Recurrent and profound hypoglycemia is a leading cause of neonatal brain injury. Small-for-gestational-age infants are at risk of hypoglycemia due to substrate deficiency and hyperinsulinism. Inappropriate insulin secretion by the β-cells of the pancreas
Suresh Chandran, Suresh Chandran, Suresh Chandran, Suresh Chandran, Kok Wooi Teoh, Krishnappa Janardhan, Krishnappa Janardhan, Krishnappa Janardhan, Krishnappa Janardhan, Fabian Yap, Fabian Yap, Fabian Yap   +11 more
doaj   +1 more source

UK Infantile Spasms Study: Effect of Time to Treatment and Age at Onset on Developmental Outcome

Pediatric Neurology Briefs, 2011
The effects of lead time to treatment (time from onset of spasms to start of treatment), age at onset of spasms, etiology, and treatment on developmental outcome at 4 years were investigated using multiple linear regression in 77 infants with spasms ...
J Gordon Millichap
doaj   +1 more source

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]

, 2018
FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R., Burrage, Lindsay C., Craigen, William J., Emrick, Lisa, Freeze, Hudson H., Graham, Brett H., Jain, Mahim, Lee, Brendan, Ng, Bobby G., Rosenfeld, Jill A.   +9 more
core   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Microglial GPR35 Ameliorates Epileptogenesis and Neuroinflammation via PDGFA Domain 2 Signaling

Advanced Science, EarlyView.
Activation of microglial G protein–coupled receptor 35 (GPR35) by L‐kynurenic acid (L‐Kyna) initiates a platelet‐derived growth factor A (PDGFA)–dependent phosphoinositide 3‐kinase–protein kinase B (PI3K–AKT) signaling cascade that dampens hippocampal neuroinflammation, thereby restraining epileptogenesis, lowering seizure susceptibility, and ...
Qi Wang, Tingting Qu, Qibing Sun, Ran Li, Junfei Dong, Yuming Du, Ziyin Xuan, Lei Wang, Hanli Li, Jianyun Sun, Fangliang Chen, Jinshuai Liu, Zifan Yang, Jianxiang Lei, Qian Yang, Bin Wang, Zhiming Zhou, Yu Wang   +17 more
wiley   +1 more source