Results 71 to 80 of about 3,613 (236)
Frontiers in Neurology, 2021 Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene.
Go Kawano +9 more
doaj +1 more source
Hypsarrhythmia in epileptic spasms: Synchrony in chaos [PDF]
Seizure, 2018 Hypsarrhythmia is an electroencephalographic pattern associated with epileptic spasms and West syndrome. West syndrome is a devastating epileptic encephalopathy, originating in infancy. Hypsarrhythmia has been deemed to be the interictal brain activity, while the electrodecremental event associated with the spasms is denoted as the ictal event.
Vera Nenadovic +3 more
openaire +2 more sources
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.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
DNM1 encephalopathy: A new disease of vesicle fission. [PDF]
, 2017 ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A +38 more
core +2 more sources
Epilepsy syndromes classification
Epilepsia Open, EarlyView.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
Involvement of the Thalamus, Hippocampus, and Brainstem in Hypsarrhythmia of West Syndrome: Simultaneous Recordings of Electroencephalography and fMRI Study [PDF]
, 2022 Yuki Maki +14 more
openalex +1 more source
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies [PDF]
, 2016 Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their ...
Allen +72 more
core +1 more source
Epilepsia Open, EarlyView.Abstract The intestinal microbiome plays a pivotal role in maintaining host health through its involvement in gastrointestinal, immune, and central nervous system (CNS) functions. Recent evidence underscores the bidirectional communication between the microbiota, the gut, and the brain and the impact of this axis on neurological diseases, including ...
Teresa Ravizza +4 more
wiley +1 more source
New insights into epileptic spasm generation and treatment from the TTX animal model
Epilepsia Open, EarlyView.Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann +2 more
wiley +1 more source
Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]
, 2014 Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core +2 more sources