Results 101 to 110 of about 141,590 (258)

Impact of therapeutic hypothermia on infantile spasms: an observational cohort study [PDF]

, 2019
Aim: To establish the incidence of infantile spasms in children in the southern region of the Republic of Ireland and to compare the incidence of infantile spasms before and after the introduction of therapeutic hypothermia in infants with hypoxic ...
Abu Dhais, Farah, Boylan, Geraldine B., Livingstone, Vicki, McNamara, Brian, McSweeney, Niamh, Murray, Deirdre M., O'Mahony, Olivia   +6 more
core   +1 more source

Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta‐analysis

Annals of Clinical and Translational Neurology, 2019
To compare the therapeutic effectiveness of oral corticosteroids with that of adrenocorticotrophic hormone for infantile spasms.
Yin-Hsi Chang, Chiehfeng Chen, Shu‐Huey Chen, Yu-Chun Shen, Yung-Ting Kuo   +4 more
semanticscholar   +1 more source

Correlation study between genetic polymorphisms of melanocortin receptors and adrenocorticotropic hormone responsiveness in infantile spasms

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R) and adrenocorticotropic hormone (ACTH) responsiveness in patients with infantile spasms, and to investigate ...
Xiu⁃yu SHI, Ying⁃xue DING, Zhan⁃li LIU, Kai⁃li SHI, Li⁃ping ZOU   +4 more
doaj  

Efficacy and tolerability of the ketogenic diet versus high‐dose adrenocorticotropic hormone for infantile spasms: A single‐center parallel‐cohort randomized controlled trial

Epilepsia, 2019
To compare the efficacy and safety of the ketogenic diet (KD) with standard adrenocorticotropic hormone (ACTH) treatment in infants with West syndrome.
A. Dressler, F. Benninger, Petra Trimmel‐Schwahofer, G. Gröppel, B. Porsche, K. Abraham, A. Mühlebner, Sharon Samueli, C. Male, M. Feucht   +9 more
semanticscholar   +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

Neurotransmission Sex Dichotomy in the Rat Hypothalamic Paraventricular Nucleus in Healthy and Infantile Spasm Model

Current Issues in Molecular Biology
We profiled the gene expressions in the hypothalamic paraventricular nuclei of 12 male and 12 female pups from a standard rat model of infantile spasms to determine the sex dichotomy of the neurotransmission genomic fabrics.
Dumitru Andrei Iacobas, Jana Veliskova, Tamar Chachua, Chian-Ru Chern, Kayla Vieira, Sanda Iacobas, Libor Velíšek   +6 more
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

Efficacy of ketogenic diet for infantile spasms: A systematic review

Acta Neurologica Scandinavica, 2018
The aim of this systematic review was to collect and analyze all the RCTs and observational studies investigating the efficacy of ketogenic diet (KD) in infantile spasms (IS) patients after a 1‐ to 6‐month follow‐up period, in terms of decrease in ...
G. Prezioso, G. Carlone, G. Zaccara, A. Verrotti   +3 more
semanticscholar   +1 more source

High-dose corticotropin (ACTH) versus prednisone for infantile spasms: a prospective, randomized, blinded study. [PDF]

, 1996
ObjectiveTo compare the efficacy of corticotropin (ACTH) (150 U/m2/day) and prednosone (2 mg/kg/day) given for 2 weeks, in suppressing clinical spasms and hypsarrhythmic electroencephalogram (EEG) in infantile spasms (IS).
Baram, TZ, Hanson, RA, Horton, EJ, Mitchell, WG, Snead, OC, Tournay, A   +5 more
core  

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies [PDF]

, 2015
Developmental epilepsies are age-dependent seizure disorders for which genetic causes have been increasingly identified. Here we report six unrelated individuals with mutations in salt-inducible kinase 1 (SIK1) in a series of 101 persons with early ...
Dobyns, William B., Ghoneim, Dalia H., Gunter, Sonya A., Gurnett, Christina A., Halterman, Marc W., Hansen, Jeanne, Jansen, Laura A., Paciorkowski, Alex R., Paschal, Bryce M., Shinawi, Marwan, Smyser, Christopher D., Snow, Chelsi, Spencer, Adam, Tuttle, Emily, Wheless, James, Yang, Chun-Song   +15 more
core   +1 more source