Results 91 to 100 of about 149,294 (247)

Insights into ANKRD11‐related epilepsy from 163 people

open access: yesEpilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia 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

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

open access: yesZdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

Aicardi syndrome – case report and literature review

open access: yesAnnales Academiae Medicae Silesiensis
Aicardi syndrome (AS) is a rare congenital disorder with neurodevelopmental symptoms that in the significant majority of cases occurs in females. It is typically characterized by a classic triad of symptoms: epileptic spasms, agenesis of the corpus ...
Patrycja Ochman-Pasierbek   +4 more
doaj   +1 more source

Transcranial Direct Current Stimulation for Patients With Pharmacoresistant Epileptic Spasms: A Pilot Study

open access: yesFrontiers in Neurology, 2019
Background: Epileptic spasms (ES) is a severe seizure type and lack of adequate methods for controlling of clinical attacks. Previous studies have indicated that cathodal transcranial direct current stimulation (tDCS) reduces seizure frequency for ...
Dongju Yang   +20 more
doaj   +1 more source

Epilepsy syndromes classification

open access: yesEpilepsia 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

A pilot study on the programming protocol of vagus nerve stimulation in children with drug‐resistant epilepsy: High pulse amplitude or high duty cycle

open access: yesEpilepsia Open
Objective To compare the efficacy and safety of vagus nerve stimulation using different modes in patients with drug‐resistant epilepsy (DRE). Methods Children with DRE who underwent vagus nerve stimulator implantation between March 2019 and December 2022
Yuying Pan   +9 more
doaj   +1 more source

Epileptic Encephalopathies, CDKL5 Mutations, and Infantile Spasms

open access: yesPediatric Neurology Briefs, 2012
Researchers at the Mayo Clinic, Rochester, MN performed retrospective chart reviews of 6 children with epilepsy and CDKL5 mutations.
J Gordon Millichap
doaj   +1 more source

Intestinal microbiome alterations in pediatric epilepsy: Implications for seizures and therapeutic approaches

open access: yesEpilepsia 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

Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta‐analysis

open access: yesEpilepsia
We conducted a systematic review investigating the efficacy and tolerability of adrenocorticotropic hormone (ACTH) and corticosteroids in children with epilepsies other than infantile epileptic spasm syndrome (IESS) that are resistant to anti‐seizure ...
Rudolf Korinthenberg   +5 more
semanticscholar   +1 more source

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