Results 71 to 80 of about 59,645 (241)
Genetic causes of infantile spasms
, 2012 Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be
Ousager, Lilian Bomme; id_orcid +4 more
core +1 more source
Orphanet Journal of Rare Diseases, 2018 Background Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological
Jason L. Jia +4 more
doaj +1 more source
Insights into ANKRD11‐related epilepsy from 163 people
Epilepsia, EarlyView.Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su +6 more
wiley +1 more source
Raising resilience: A parenting intervention for families affected by childhood epilepsy
Epilepsia, EarlyView.Abstract Objective Despite behavioral concerns reported among children with epilepsy, evidence‐based family‐focused interventions designed for this population remain limited. The objectives of this study were to characterize behavioral concerns and parent mental health needs in families of children with epilepsy relative to children with non‐epileptic ...
Samantha J. Feldman +4 more
wiley +1 more source
The significance of focal pattern in hypsarrhythmia
Brain DisordersIntroduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann +2 more
doaj +1 more source
A prospective natural history study protocol for clinical trial readiness in synaptic disorders
Epilepsia, EarlyView.Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee +38 more
wiley +1 more source
Risk Factors Associated with Infantile Spasms: A Hospital-Based Case- Control Study in Taiwan
, 2009 We investigated the risk factors associated with infantile spasms (IS) by a hospital-based case-control study in Taiwan . Twenty-five patients with IS were recruited from one medical center (National Taiwan University Hospital) between 1990 and 1997 ...
LIOU, HORNG-HUEI;OON, PEI-CHING;LIN, HAUNG-CHI;WANG, PEN-JUNG;CHEN, TONY HSIU-HSI +1 more
core
WONOEP appraisal: Biomarkers and treatment strategies beyond the synapse
Epilepsia, EarlyView.Abstract Epilepsy is a heterogeneous neurological disorder affecting more than 70 million people worldwide, posing significant challenges for clinicians due to its complex etiology, diverse manifestations, variable treatment responses, and the inability to predict seizures or disease onset reliably.
Mirte Scheper +11 more
wiley +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
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R) and adrenocorticotropic hormone (ACTH) responsiveness in patients with infantile spasms, and to investigate ...
Xiu⁃yu SHI +4 more
doaj