Results 211 to 220 of about 456,827 (283)

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

open access: yesEpilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy   +8 more
wiley   +1 more source

Associations between white matter micro- and macro-structure and attention in 6-7-year-old children with low to moderate prenatal alcohol exposure. [PDF]

open access: yesBrain Imaging Behav
Pyman P   +15 more
europepmc   +1 more source

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer   +26 more
wiley   +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

Gut‐microbiota‐brain Axis and post‐traumatic epilepsy

open access: yesEpilepsia Open, EarlyView.
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

Cognitive Disengagement Syndrome Symptoms and ADHD Dimensions in Relation To Children's Daily Life Executive Functioning Deficits. [PDF]

open access: yesRes Child Adolesc Psychopathol
Miller MC   +6 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang   +3 more
wiley   +1 more source

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