Results 181 to 190 of about 123,237 (299)

Cushing's disease across the lifespan: a case-based clinical review. [PDF]

open access: yesArch Endocrinol Metab
Nowak E   +4 more
europepmc   +1 more source

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

open access: yesCNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen   +9 more
wiley   +1 more source

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

open access: yesEpilepsia Open, Volume 11, Issue 4, Page 1227-1236, August 2026.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta   +6 more
wiley   +1 more source

Cannabidiol reduces atypical absence seizures and epileptic spasms in a Gabrb3+/D120N mouse model of Lennox–Gastaut syndrome

open access: yesEpilepsia Open, Volume 11, Issue 4, Page 1263-1275, August 2026.
Abstract Objective Lennox–Gastaut syndrome (LGS) is a drug‐resistant developmental and epileptic encephalopathy (DEE). Preclinical drug development for LGS is constrained by a lack of syndrome‐relevant animal models. We aimed to evaluate a Gabrb3+/D120N knock‐in (KI) mouse model of LGS by quantifying atypical absence seizures and epileptic spasms and ...
Thomas Harman   +5 more
wiley   +1 more source

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