Results 41 to 50 of about 4,530 (250)
Frontiers in Neurology, 2022 BackgroundInfantile epileptic spasm syndrome (IESS) is an age-dependent epileptic encephalopathy with a significant risk of developmental regression. This study investigates the association between heart rate variability (HRV) in infants at risk of IESS ...
Ipsita Goswami +12 more
doaj +1 more source
Annals of Medical Science and Research, 2023 West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson +2 more
doaj +1 more source
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]
, 2019 Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea +28 more
core +2 more sources
Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents [PDF]
, 2012 Background Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early ...
Gibson, Patricia A. +6 more
core +2 more sources
Network dynamics in the healthy and epileptic developing brain [PDF]
, 2017 Electroencephalography (EEG) allows recording of cortical activity at high temporal resolution. EEG recordings can be summarised along different dimensions using network-level quantitative measures, e.g.
Baier, G +3 more
core +2 more sources
Эпилепсия и пароксизмальные состояния, 2017 West syndrome is an epileptic syndrome, characterized by a triad of symptoms: infantile spasms, hypsarrhythmia on interictal EEG, and a regression or delay of psycho-motoric development.
T. G. Okhapkina +5 more
doaj +1 more source
Cerebrospinal fluid corticotropin and cortisol are reduced in infantile spasms. [PDF]
, 1995 Infantile spasms respond to ACTH, and levels of the hormone in cerebrospinal fluid of untreated infants with this disorder were found to be lower than in age-matched controls. In this study we analyzed cerebrospinal fluid cortisol and ACTH using improved
Baram, TZ +4 more
core +2 more sources
Infantile spasms and developmental delay: A case of miller–Dieker syndrome
Indian Pediatrics Case Reports, 2023 Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George +3 more
doaj +1 more source
Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. [PDF]
, 2018 High-frequency oscillations (HFOs), including ripples (Rs) and fast ripples (FRs), are promising biomarkers of epileptogenesis, but their clinical utility is limited by the lack of a standardized approach to identification.
Bernardo, Danilo +5 more
core +1 more source
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]
, 2010 Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-{alpha}-aminoadipic semialdehyde/L-{Delta}
Adam +50 more
core +6 more sources