Results 171 to 180 of about 178,874 (344)

Behavioral and epileptic phenotypes in a CHD2‐related developmental delay model

open access: yesEpilepsia, EarlyView.
Abstract Objective Heterozygous loss‐of‐function mutations in the CHD2 gene, encoding chromodomain helicase DNA‐binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental ...
Anat Mavashov   +10 more
wiley   +1 more source

Scurvy Due to Malnutrition in Autistic Spectrum Disorder. [PDF]

open access: yesDtsch Arztebl Int
Posch M, Erbis A, Pommerening H.
europepmc   +1 more source

From Brain Health to Brain Economy

open access: yes
Brain Health, EarlyView.
Yongjun Wang
wiley   +1 more source

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

open access: yesEpilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt   +17 more
wiley   +1 more source

Features of mismatch negativity in an at-risk mental state with the traits associated with the autistic spectrum. [PDF]

open access: yesFront Psychiatry
Kaneko N   +8 more
europepmc   +1 more source

Optimal approach to standardized documentation in epilepsy clinics: A scoping review

open access: yesEpilepsia, EarlyView.
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi   +8 more
wiley   +1 more source

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