Results 161 to 170 of about 198,491 (299)
A prospective natural history study protocol for clinical trial readiness in synaptic disorders
Abstract Objective STXBP1‐related disorder (STXBP1‐RD) and SYNGAP1‐related disorder (SYNGAP1‐RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems.
Jillian L. McKee +38 more
wiley +1 more source
Living in the Borderlands Between Electrophysiology and Cardiomyopathy. [PDF]
Costantino J, Chimenti C.
europepmc +1 more source
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta +26 more
wiley +1 more source
Abstract Objective A multi‐electrode array (MEA) is a powerful extracellular recording technique for long‐term monitoring of neuronal network activity. In recent years, MEA‐based assays have been applied increasingly to evaluate drug efficacy and neurotoxicity, including the assessment of anti‐seizure medications (ASMs). However, systematic comparisons
Griselda Marku +4 more
wiley +1 more source
β‐Hydroxybutyrate reduces neuronal excitability via GIRK channels
β‐Hydroxybutyrate decreases neuronal excitability by activating GIRK channels through HCAR2 signaling, providing a cellular mechanism that may contribute to the antiseizure effects of the ketogenic diet. Abstract Objective The ketogenic diet is used to treat drug‐resistant epilepsy, yet the molecular mechanisms coupling metabolic state to seizure ...
Soudabeh Naderi +8 more
wiley +1 more source
Abstract Objective Despite elevated risk for epilepsy following traumatic brain injury (TBI), there are limited tools to assess epilepsy risk following TBI using routine clinical data. The objective of this study was to develop and validate a machine learning approach to predict the onset of posttraumatic epilepsy (PTE) over varying time horizons ...
Mustafa Ozmen +6 more
wiley +1 more source

