Results 51 to 60 of about 272,074 (239)
Modern problems of diagnosis of autism [PDF]
Психологическая наука и образование (2007. Online), 2014 After a brief analysis of the autism problem history in domestic and foreign literature, the authors clarifiy the concept of autism as a form of personality pathology.
N.M. Iovchuk, A.A. Severnyi
doaj
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Frontiers in Psychiatry, 2019 Individuals with autism spectrum disorder (ASD) frequently display intensely repetitive, restricted thoughts, and behaviors. These behaviors have similarities to compulsions and/or obsessions in obsessive compulsive disorder (OCD) and are primarily ...
Anna Järvinen +4 more
doaj +1 more source
Psychotic spectrum disorders in childhood [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2008 For a long time, there was a strong belief of existing continuity between childhood-onset psychoses and adult psychoses. Important moment in understanding psychotic presentations during infancy and childhood is Kanner's description of early infantile ...
Popović-Deušić Smiljka +4 more
doaj +1 more source
Annals of the Child Neurology Society, EarlyView.ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata +9 more
wiley +1 more source
Эпилепсия и пароксизмальные состояния, 2019 Aim. To assess the epileptic, cognitive and autistic manifestations of agenesis of the corpus callosum (ACC) in children.Material and methods. Clinical characteristics of 31 patients (median age 6.6±0.9 years) with ACC were studied.
O. A. Milovanova +4 more
doaj +1 more source
Molecular Cytogenetics, 2020 Background Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC carriers.
Yinghong Lu +8 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Objectives: To study the genetic and clinical characteristics of Chinese children with pathogenic proline-rich transmembrane protein 2 (PRRT2) gene-associated disorders.Methods: Targeted next generation sequencing (NGS) was used to identify pathogenic ...
Han-yu Luo +23 more
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source