Results 211 to 220 of about 174,979,501 (287)
Abstract Objective Levetiracetam (LEV) is an antiseizure medication approved for focal and generalized epilepsy. Despite its efficacy, neuropsychiatric adverse effects (NP‐AEs) may lead to treatment discontinuation. Quantitative electroencephalographic (qEEG) graph‐theoretical analysis has emerged as a valuable tool for identifying neurophysiological ...
Marco Sferruzzi +10 more
wiley +1 more source
Familial SCN1A-Related Epilepsy in Palestinian Siblings: Challenges of Genetic Testing in Resource-Limited Settings: A Case Report. [PDF]
Abu Hetta A +5 more
europepmc +1 more source
Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman +11 more
wiley +1 more source
Electroclinical Dissociation in Generalized Epilepsy: A Video-EEG Case From Sub-Saharan Africa. [PDF]
Ayele YY.
europepmc +1 more source
Abstract A new type of epilepsy syndrome, an etiology‐specific epilepsy syndrome, was defined in 2022 in recognition of major advances in identifying the many genetic and acquired etiologies underlying the epilepsies. An etiology‐specific epilepsy syndrome refers to where a known etiology is associated with a distinctive epilepsy presentation ...
Ingrid E. Scheffer +15 more
wiley +1 more source
Sudden Unexpected Death in Epilepsy (SUDEP) and Cardiovascular Dysfunction - Unraveling the Link: A Narrative Review. [PDF]
Kachhadia MP +9 more
europepmc +1 more source
Abstract Objective The ketogenic diet (KD) is a high‐fat, low‐carbohydrate intervention widely used to treat drug‐resistant epilepsy, thought to reduce seizures through a combination of metabolic, neuronal, and microbiota‐dependent mechanisms. Additionally, recent studies suggest that the anticonvulsant effects of KD require the gut microbiota, with ...
Casey H. Meili +4 more
wiley +1 more source
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy primarily caused by haploinsufficiency of the SCN1A gene, which encodes the alpha subunit of NaV1.1 voltage‐gated sodium channel. The disease manifests with febrile and spontaneous seizures, developmental delay, cognitive impairment, and increased risk of sudden ...
Martina Mainardi +4 more
wiley +1 more source
Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity. [PDF]
Cai MS, Li HR, Liao P, Hu ZL, Chen YJ.
europepmc +1 more source

