Results 51 to 60 of about 1,226,813 (207)
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori +4 more
wiley +1 more source
Background Infantile spasms represent a serious epileptic syndrome that occurs in the early infantile age. ACTH and Vigabatrin are actively investigated drugs in its treatment.
Ishaque Sidra +3 more
doaj +1 more source
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Abstract Objective Rasmussen's encephalitis (RE) is a rare and progressive, immune‐mediated epileptic encephalopathy characterized by drug‐resistant seizures and neurological decline. While hemispheric disconnection (HD) is the gold standard treatment for effective seizure control, this procedure carries significant risk of permanent neurological ...
Krish Nair +11 more
wiley +1 more source
Auditory processing in the syndrome of infantile spasms. [PDF]
The early onset epileptic encephalopathy of infantile spasms is frequently associated with acute cognitive regression, long-term learning disability and autistic spectrum disorder. Although there may be a structural basis to the epilepsy, it appears that
Werner, K.G.E.
core
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron +7 more
wiley +1 more source
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini +13 more
wiley +1 more source
Infantile spasms: does season influence onset and long-term outcome?
To study whether onset of infantile spasms manifests seasonal variation, as previously reported, and whether any such seasonality is associated with treatment response and long-term outcome, data for 57 patients were retrospectively reviewed.
von Elm, Erik +9 more
core +1 more source
The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy
Objective ST3GAL3‐related developmental and epileptic encephalopathy (DEE‐15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy.
Robyn Whitney +6 more
doaj +1 more source

