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
Motor imagery affects both cortical and spinal circuitry: a transcranial and trans-spinal magnetic stimulation study. [PDF]
Benachour A, Syrov N, Lebedev M.
europepmc +1 more source
Creativity and its link to epilepsy
Abstract Creative thinking represents one of our highest‐order cognitive processes, involving multiple cortical structures and an intricate interplay between several cortical and subcortical networks. It results in novel ideas that translate to useful products or concepts. The evolutionary purpose of creativity is therefore apparent, as it advances our
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Speech in noise prediction by use of cortical auditory evoked potentials in normal hearing and sensorineural hearing loss: a systematic review. [PDF]
Biot L +5 more
europepmc +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Evoked potentials in stroke rehabilitation: current applications, emerging technologies, and future directions. [PDF]
Wang Z, Liu X, Xie J, Lin Y.
europepmc +1 more source
Epilepsy syndromes classification
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
Exploring causal associations between autoimmune diseases and hearing loss: a mendelian randomization study. [PDF]
Huang Y, Gao S, Luo R.
europepmc +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source

