Results 61 to 70 of about 152,711 (286)
Longer Duration of Epilepsy and Earlier Age at Epilepsy Onset Correlate with Impaired Cognitive Development in Infancy [PDF]
, 2009 We assessed the impact of age at onset of epilepsy and duration and frequency of seizures on cognitive development in children less than 3 years old. Retrospective analysis was conducted on clinical data and neuropsychological testing of 33 infants with ...
Vendrame, Martina
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The objective of this study is to describe outcomes of rapid exome (rES) and rapid genome sequencing (rGS) in an inpatient setting. This is a retrospective cohort of inpatients with rES or rGS during their hospitalization between April 2016 and November 2023.
Cecilia M. Kessler +5 more
wiley +1 more source
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. [PDF]
PLoS ONE, 2018 Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical ...
Anne T Berg +21 more
doaj +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
Epilepsia OpenObjective Relapse of epileptic spasms after initial treatment of infantile epileptic spasms syndrome (IESS) is common. However, past studies of small cohorts have inconsistently linked relapse risk to etiology, treatment modality, and EEG features upon ...
Emmi Deckard +7 more
doaj +1 more source
Pediatric Neurology Briefs, 1997 Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp ...
J Gordon Millichap
doaj +1 more source
Neurology, 2018 > Her MRI paints an unnerving tale > > Honest truths announce themselves > > In black and white > > Ominous, for all to ...
openaire +3 more sources
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 +7 more
core +1 more source
Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley +1 more source
Current trends in the treatment of infantile spasms
Neuropsychiatric Disease and Treatment, 2009 Chang-Yong TsaoClinical Pediatrics and Neurology, The Ohio State University, College of Medicine, Columbus, Ohio, USAAbstract: Infantile spasms are an epilepsy syndrome with distinctive features, including age onset during infancy, characteristic ...
Chang-Yong Tsao
doaj