Results 91 to 100 of about 32,140 (267)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
Idiopathic West Syndrome followed by childhood absence epilepsy
, 2010 West Syndrome (WS) is a severe epileptic encephalopathy occurring in the first year of life. According the ILAE classification of epileptic seizures and epilepsy the etiology could be symptomatic or cryptogenic.
Nicola Specchio +7 more
core +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
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Early-onset versus typical childhood absence epilepsy; clinical and electrographic characteristics
, 2012 PurposeChildhood absence epilepsy (CAE) is characterized by absence attacks with stereotyped electrographic discharges. Epidemiologic data concerning early-onset CAE is scarce.
Nikseresht, Alireza +2 more
core +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 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
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
Relapses, Comorbidities, and Predictors of Outcome in Anti‐GABAA Receptor Encephalitis
Annals of Neurology, EarlyView.Objectives To characterize the magnetic resonance imaging (MRI) lesion dynamics, comorbidities, predictors of relapse, and outcomes in anti‐γ‐aminobutyric acid type A receptor (GABAAR) encephalitis, and assess the utility of LIM‐domain‐only‐protein 5 (LMO5) antibodies as tumor markers.
Claudia Papi +33 more
wiley +1 more source