Results 231 to 240 of about 585,856 (303)
KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan +20 more
wiley +1 more source
Intercultural Cognitive Pragmatics as a tool for understanding autism. [PDF]
Żuromski D, Pacholik-Żuromska A.
europepmc +1 more source
Abstract Objective Systematic reviews and meta‐analyses (SRMAs) are critical for synthesizing evidence and guiding clinical and public health decision‐making. This study aims to evaluate the reliability, validity and reproducibility of the International League Against Epilepsy (ILAE) Commission on Epidemiology Risk of Bias Tool by comparing it against ...
Churl‐Su Kwon +3 more
wiley +1 more source
Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome
Abstract Objective Dravet syndrome (DS) is a prototypical developmental and epileptic encephalopathy caused by mutations in the SCN1A gene, leading to loss of function of the voltage‐gated sodium channel Naᵥ1.1. The latter causes early onset drug‐resistant seizures and enduring cognitive and behavioral deficits.
Athénaïs Genin +10 more
wiley +1 more source
Occurrence of mental health challenges and their association with autistic traits, cognitive level and adaptive functioning in autistic preschool children. [PDF]
Wu WT, John JR, Mendoza Diaz A, Eapen V.
europepmc +1 more source
Women with epilepsy: Evidence‐based counseling across the lifespan
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn +7 more
wiley +1 more source
Gut‐microbiota‐brain Axis and post‐traumatic epilepsy
Abstract There has been growing evidence that perturbations in gut‐microbiota‐brain axis (GMBA) are involved in mechanisms of chronic sequelae of traumatic brain injury (TBI). This review discusses the connection between GMBA and post‐traumatic epilepsy (PTE), the latter being a common outcome of TBI.
Andrey Mazarati
wiley +1 more source
Epilepsy syndromes classification
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source

