Results 71 to 80 of about 142,677 (240)

Management of Infantile Spasms During the COVID-19 Pandemic

Journal of Child Neurology, 2020
Circumstances of the COVID-19 pandemic have mandated a change to standard management of infantile spasms. On April 6, 2020, the Child Neurology Society issued an online statement of immediate recommendations to streamline diagnosis and treatment of ...
Z. Grinspan, J. Mytinger, Fiona M. Baumer, Michael Ciliberto, B. Cohen, D. Dlugos, C. Harini, Shaun A. Hussain, Sucheta M Joshi, C. Keator, K. Knupp, P. McGoldrick, K. Nickels, Jun T. Park, Archana Pasupuleti, Anup D. Patel, Asim M Shahid, R. Shellhaas, Daniel W. Shrey, Rani K. Singh, S. Wolf, Elissa G. Yozawitz, Christopher J. Yuskaitis, Jeffrey Waugh, P. Pearl   +24 more
semanticscholar   +1 more source

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]

, 2016
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G, Kurian, MA, McTague, A, Meyer, E, Ngoh, A, Papandreou, A, Scott, RH, Trump, N   +7 more
core   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +1 more source

Prednisolone/prednisone as adrenocorticotropic hormone alternative for infantile spasms: a meta‐analysis of randomized controlled trials

Developmental Medicine & Child Neurology, 2020
To compare the efficacy and safety of prednisolone/prednisone and adrenocorticotropic hormone (ACTH) in the treatment of infantile spasms using a meta‐analysis of randomized controlled trials (RCTs).
Shaojun Li, Xuefei Zhong, Si-qi Hong, Tingsong Li, Li Jiang   +4 more
semanticscholar   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Mortality in infantile spasms: A hospital‐based study

Epilepsia, 2020
To determine risk factors and causes for mortality during childhood in patients with infantile spasms (IS). We describe the overall goals of care for those who died.
C. Harini, Elanagan Nagarajan, A. Bergin, P. Pearl, T. Loddenkemper, M. Takeoka, Peter F. Morrison, D. Coulter, Gita Harappanahally, Candice Marti, Kanwaljit Singh, Christopher J. Yuskaitis, A. Poduri, M. Libenson   +13 more
semanticscholar   +1 more source

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard, Blandine Dozières‐Puyravel, Katia Geraldes, Céline Perrot, Virginie Quéméner, Estelle Goujon, Pierre Truchy, Hala Nasser, François‐Xavier Mauvais, Marion Danse, Stéphane Auvin   +10 more
wiley   +1 more source

Non-invasive, multimodal analysis of cortical activity, blood volume and neurovascular coupling in infantile spasms using EEG-fNIRS monitoring

NeuroImage: Clinical, 2017
Although infantile spasms can be caused by a variety of etiologies, the clinical features are stereotypical. The neuronal and vascular mechanisms that contribute to the emergence of infantile spasms are not well understood.
Emilie Bourel-Ponchel, Mahdi Mahmoudzadeh, Aline Delignières, Patrick Berquin, Fabrice Wallois   +4 more
doaj   +1 more source

Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms

Children, 2020
Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children in the middle of the first year of life. The pathophysiology of IS remains incompletely understood, despite the heterogeneity of
Remi Janicot, Li-Rong Shao, C. Stafstrom
semanticscholar   +1 more source