Whole genomic approach in mutation discovery of infantile spasms patients. [PDF]
Front Neurol, 2022 Lee S +5 more
europepmc +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Natalja Bouwhuis +9 more
wiley +1 more source
The Efficacy of the Ketogenic Diet in Improving Seizures and EEG Findings in Patients with Refractory Infantile Spasms. [PDF]
Iran J Child Neurol, 2022 Hanifiha M +3 more
europepmc +1 more source
Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family
Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.A five generation family with a known pathogenic variant (c.1372C>T; p.Arg458*) in TSC2 displaying a severe renal phenotype characterized by large angiomyolipomas, renal cystic disease, and chronic kidney disease leading to renal failure. Our report illustrates a possible genotype–phenotype and highlights the importance of establishing genotype ...
Elena Tuller +3 more
wiley +1 more source
Steroids in Infantile Spasms Syndrome: Another Trial, Another Drug, Another Dose, What's Next? [PDF]
Ann Indian Acad Neurol, 2022 Whitney R, Jain P.
europepmc +1 more source
Maternal Child‐Directed Speech Toward Children With Infantile Spasm or West Syndrome
International Journal of Language &Communication Disorders, Volume 61, Issue 2, March/April 2026.ABSTRACT Background Maternal child‐directed speech (MCDS) plays a critical role in early language and communicative development, yet little is known about how it adapts to neurodevelopmental conditions such as Infantile Spasms/West Syndrome (WS), particularly when co‐occurring with intellectual disability (WID) or autism spectrum disorder (WASD).
Le Normand M.T. +6 more
wiley +1 more source
Infantile Spasms in Tuberous Sclerosis Complex: Lesion or Network? [PDF]
Epilepsy Curr, 2021 Joshi C, Bear JJ.
europepmc +1 more source
Zdravniški Vestnik, 2008 Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj
Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms. [PDF]
Neurology, 2022 Yuskaitis CJ +15 more
europepmc +1 more source
Altered topological organization of resting-state functional networks in children with infantile spasms. [PDF]
Front Neurosci, 2022 Wang Y, Li Y, Yang L, Huang W.
europepmc +1 more source