The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model
Annals of Neurology, EarlyView.Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins +104 more
wiley +1 more source
Effects of Disability, Gender, and Level of Supervision on Ratings of Job Applicants [PDF]
, 2001 Using ratings of hypothetical job applicants with and without a disability obtained from both fulltime workers (n = 88) and undergraduates (n = 98), we examined the effects of disability (paraplegia, epilepsy, clinical depression, or non-disabled ...
Bell, Bradford S., Klein, Katherine J.
core +2 more sources
Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures
Annals of Neurology, EarlyView.Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick +9 more
wiley +1 more source
The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy
Annals of Neurology, EarlyView.Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva +13 more
wiley +1 more source
EEG⁃fMRI study of resting⁃state networks in childhood absence epilepsy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 Objective To observe the alterations of resting ⁃ state brain functional networks in childhood absence epilepsy (CAE) using resting ⁃ state functional magnetic resonance imaging (fMRI) analysis, and to explore the cognitive disorders of children in ...
Ling ZHENG +10 more
doaj
Cannabinoids and drug–drug pharmacokinetic interactions: Deciphering the risks
British Journal of Clinical Pharmacology, EarlyView.The relationship between cannabinoids and mental health has become a major focus of scientific inquiry and public discourse. Cannabinoids are diverse chemical compounds from the Cannabis species that have been explored for their therapeutic applications in treating chronic pain, psychiatric and neurological conditions, such as depression, schizophrenia,
Paraskevi Papakyriakopoulou +2 more
wiley +1 more source
Animal models of absence epilepsies: What do they model and do sex and sex hormones matter?
Neurobiology of Disease, 2014 While epidemiological data suggest a female prevalence in human childhood- and adolescence-onset typical absence epilepsy syndromes, the sex difference is less clear in adult-onset syndromes.
Gilles van Luijtelaar +2 more
doaj +1 more source
Exploring the core network of the structural covariance network in childhood absence epilepsy. [PDF]
Heliyon, 2023 Eussen MJA +8 more
europepmc +1 more source
GABRB3 Mutation, G32R, Associated with Childhood Absence Epilepsy Alters α1β3γ2L γ-Aminobutyric Acid Type A (GABAA) Receptor Expression and Channel Gating [PDF]
, 2012 Katharine N. Gurba +3 more
openalex +1 more source
British Journal of Clinical Pharmacology, EarlyView.Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić +7 more
wiley +1 more source