Results 11 to 20 of about 152,711 (286)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study
Frontiers in Pediatrics, 2022 Objective To explore the etiology of infantile spasms (IS) in a large Chinese cohort based on the United States National Infantile Spasms Consortium (NISC) classification.
P. Peng +9 more
semanticscholar +1 more source
Targeted gut microbiota manipulation attenuates seizures in a model of infantile spasms syndrome
JCI Insight, 2022 Infantile spasms syndrome (IS) is a devastating early-onset epileptic encephalopathy associated with poor neurodevelopmental outcomes. When first-line treatment options, including adrenocorticotropic hormone and vigabatrin, are ineffective, the ketogenic
C. Mu +8 more
semanticscholar +1 more source
EEG biomarkers for the diagnosis and treatment of infantile spasms
Frontiers in Neurology, 2022 Early diagnosis and treatment are critical for young children with infantile spasms (IS), as this maximizes the possibility of the best possible child-specific outcome.
Blanca Romero Milà +4 more
semanticscholar +1 more source
Pediatric Clinics of North America, 1989 Infantile spasms are a unique disorder of infancy and early childhood. The average age at onset of infantile spasms is 6 months and the average incidence of the disorder is approximately 0.31 per 1000 live births. Approximately one-quarter of patients will spontaneously stop having spasms within 1 year of onset.
R A, Hrachovy, J D, Frost
openaire +6 more sources
Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants
Arquivos de Neuro-Psiquiatria, 2023 Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder.
Letícia Pereira de Brito Sampaio +7 more
doaj +1 more source
Inequities in Therapy for Infantile Spasms: A Call to Action
Annals of Neurology, 2022 The aim of this study was to determine whether selection of treatment for children with infantile spasms (IS) varies by race/ethnicity.
Fiona M. Baumer +22 more
semanticscholar +1 more source
The mystery of the Doctor's son, or the riddle of West syndrome. [PDF]
, 2002 Although the eponym "West syndrome" is used widely for infantile spasms, the originators of the term and the time frame of its initial use are not well known. This article provides historical details about Dr. West, about his son who had infantile spasms,
Baram, Tallie Z +3 more
core +5 more sources
Neurology, 2022 Background and Objectives Standard therapies (adrenocorticotropic hormone [ACTH], oral steroids, or vigabatrin) fail to control infantile spasms in almost half of children. Early identification of nonresponders could enable rapid initiation of sequential
Christopher J. Yuskaitis +14 more
semanticscholar +1 more source
Frontiers in Neurology, 2021 Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene.
Go Kawano +9 more
doaj +1 more source