Results 111 to 120 of about 59,501 (281)
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
From triggers to ictal events: A video case series of reflex seizures
Epileptic Disorders, EarlyView.
Laure Salmon +3 more
wiley +1 more source
Detection of focal impaired awareness seizures using a biometric shirt
Abstract Objective In recent years, seizure detection using wearable technology has gained significant attention in research. Most studies, however, have focused on detecting generalized or focal to bilateral tonic–clonic seizures. This study evaluates the feasibility of using a biometric shirt to detect focal impaired awareness seizures (FIAS) by ...
Jérôme St‐Jean +6 more
wiley +1 more source
Case report: Lingual dystonia symptoms treated with botulinum toxin in patients with THAP1 mutation
Background: THAP1 mutation dystonia is a known genetic cause of generalized dystonia. THAP1 mutation frequently presents with clinical features of bulbar dysfunction, including oromandibular and lingual dystonia.
Aparna Wagle Shukla +3 more
doaj +1 more source
Drug‐Refractory Dystonia: Benefits of Lamotrigine Therapy in a Case of SCN2A Epilepsy‐Dyskinesia Syndrome [PDF]
Movement Disorders Clinical Practice, EarlyView.
Platt I +3 more
europepmc +2 more sources
Epilepsy surgery: From bench to the clinics
Abstract Objective Recent advances in epilepsy surgery in patients with intractable epilepsy make it possible to study the mechanism of epilepsy in human brains. However, the true extent and propagation of each epileptogenic area from the epileptogenic focus in each patient is still difficult to perform “epilepsy cure” by surgery.
Tatsuya Tanaka
wiley +1 more source
Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care
Abstract Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of the most severe epilepsies, characterized by seizure onset and neurodevelopmental delay in infancy or childhood, often with additional neurological and systemic comorbidities.
Alex M. Dudley +5 more
wiley +1 more source
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung +3 more
wiley +1 more source
Mechanisms of GNAL linked dystonia
Mutations in the GNAL gene, encoding Gαolf, are causative for an adult-onset, isolated dystonia that may provide unique insights into the etiology of adult-onset idiopathic dystonia. Gαolf is an alpha subunit of heterotrimeric G protein that replaces Gαs
Mark S. Moehle
doaj +1 more source

