Abstract Objective Autoimmune epilepsy (AES) is increasingly recognized as a condition in patients with epilepsy of unknown etiology. Early immunotherapy improves outcomes; however, data on its prevalence and the frequency of anti‐neural/neuronal antibodies in Asian populations remain scarce.
Seong Jin Park +14 more
wiley +1 more source
Clinical and Genetic Characteristics of <i>KCNT1</i>-Related Epilepsy in Infancy. [PDF]
K F, Ku A, St A, Bc P, S A, Ka I, J F.
europepmc +1 more source
Mendelian randomization (MR) studies were conducted using the inverse‐variance weighted (IVW) method, MR‐Egger and weighted median on juvenile myoclonic epilepsy (JME), and systemic lupus erythematosus (SLE) data from the Integrative Epidemiology Unit (IEU) Open genome‐wide association study (GWAS) database and the International League Against Epilepsy
Sirui Chen +10 more
wiley +1 more source
Real-world effectiveness of highly purified cannabidiol in epilepsy associated with 15q11.2-q13.1 duplication and deletion syndromes: A multicenter study. [PDF]
Cerulli Irelli E +14 more
europepmc +1 more source
Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]
Pandit A +5 more
europepmc +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology. [PDF]
Balestrini S +29 more
europepmc +1 more source
Orthostatic Myoclonus—Clinical and Electrophysiological Features in a Large Retrospective Cohort
Abstract Background Orthostatic myoclonus is characterized by irregular, lower limb myoclonic bursts during stance and is a major cause of postural instability and falls. However, studies are limited, and little is known about its pathophysiology. Objectives We sought to define the clinical and electrophysiological features of orthostatic myoclonus in ...
Sai A. Nagaratnam +8 more
wiley +1 more source
Epilepsy with myoclonic-atonic seizures: genetic aetiologies, outcomes and prognostic indicators. [PDF]
Pellacani S +10 more
europepmc +1 more source
Acute and Chronic Local Field Potential Recordings in Dystonia—A Systematic Review
Abstract Dystonia is a hyperkinetic movement disorder increasingly conceptualized as a disorder of distributed network dysfunction involving the basal ganglia, cortex and cerebellum. Local field potentials (LFPs) recorded from deep brain stimulation (DBS) electrodes provide a unique opportunity to characterize the electrophysiological signatures ...
Jack Horan +6 more
wiley +1 more source

