Results 41 to 50 of about 17,755 (294)

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

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

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]

, 2019
BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY, Corsello G, Falsaperla R., Jin DK, Marino S, Marino SD, Pappalardo XG, Pavone P, Ruggieri M   +8 more
core   +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

Longer Duration of Epilepsy and Earlier Age at Epilepsy Onset Correlate with Impaired Cognitive Development in Infancy [PDF]

, 2009
We assessed the impact of age at onset of epilepsy and duration and frequency of seizures on cognitive development in children less than 3 years old. Retrospective analysis was conducted on clinical data and neuropsychological testing of 33 infants with ...
Vendrame, Martina
core   +2 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +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

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

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. [PDF]

PLoS ONE, 2018
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 ...
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   +21 more
doaj   +1 more source