Results 271 to 280 of about 181,231 (346)

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

open access: yesEpilepsia, EarlyView.
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

Experiences of autistic women in menopause: brief review and recommendations for practice and research. [PDF]

open access: yesFront Reprod Health
Badgett NM   +4 more
europepmc   +1 more source

Validation of the International League Against Epilepsy (ILAE) Risk of Bias Tool against the Newcastle–Ottawa Scale in epilepsy research

open access: yesEpilepsia, EarlyView.
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

Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities. [PDF]

open access: yesFront Genet
Guerrera S   +18 more
europepmc   +1 more source

Long‐lasting remodeling of astrocytes in an Scna1+/− mouse model of Dravet syndrome

open access: yesEpilepsia, EarlyView.
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

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