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
Long‐term Cognitive Outcomes of a Cohort of Children with Cryptogenic Infantile Spasms Treated with High‐dose Adrenocorticotropic Hormone [PDF]
, 2004 Sara Kivity +5 more
openalex +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel +2 more
wiley +1 more source
Whole genomic approach in mutation discovery of infantile spasms patients. [PDF]
Front Neurol, 2022 Lee S +5 more
europepmc +1 more source
Estimation of prevalence and incidence of infantile spasms in Taiwan using capture–recapture method [PDF]
, 2004 Chih‐Cheng Chen +7 more
openalex +1 more source
HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, Volume 98, Issue 3, Page 573-589, September 2025.Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer +52 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
Reduced Visual Function Associated with Infantile Spasms in Children on Vigabatrin Therapy [PDF]
, 2005 Dena S. Hammoudi +7 more
openalex +1 more source
Cannabinoids for Medical Purposes in Children: A Living Systematic Review
Acta Paediatrica, Volume 114, Issue 9, Page 2148-2159, September 2025.ABSTRACT Aim We developed a living systematic review (LSR) that will continuously map the safety and reported benefit data related to cannabinoid use for medical purposes in children. Methods MEDLINE, Embase, PsycInfo, and the Cochrane Library were searched from inception to April 2023.
Manik Chhabra +7 more
wiley +1 more source