Results 151 to 160 of about 46,748 (286)

Prospective evaluation of a seizure detection wearable device for timely interventions in an epilepsy monitoring unit

open access: yesEpilepsia, EarlyView.
Abstract Objective This study aimed to evaluate the real‐world performance of a wrist‐worn seizure detection device for timely clinical interventions within an epilepsy monitoring unit (EMU). Methods We conducted a prospective observational study involving patients admitted to the EMU at a tertiary care center.
Amirhossein Jahani   +9 more
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

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz   +73 more
wiley   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan   +23 more
wiley   +1 more source

The crossroad of delirium, mania, and catatonia: A case series on delirious mania. [PDF]

open access: yesIndian J Psychiatry
Gangwal R   +3 more
europepmc   +1 more source

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