Results 21 to 30 of about 1,226,813 (207)

SinTransNet: an EEG-based deep learning framework for infantile epileptic spasms syndrome detection [PDF]

open access: yesBMC Medical Informatics and Decision Making
Infantile Epileptic Spasms Syndrome (IESS) represents a severe form of developmental epileptic encephalopathy in infancy, characterized by clusters of spasms and hypsarrhythmia patterns on electroencephalogram (EEG), which often lead to long-term ...
Junyuan Feng   +6 more
doaj   +2 more sources

Integrated analysis of proteomics and metabolomics in infantile epileptic spasms syndrome. [PDF]

open access: yesSci Rep
Infantile Epileptic Spasms Syndrome (IESS) is a severe developmental epileptic encephalopathy that manifests in infancy, significantly impacting the health and quality of life of affected children. The treatment of IESS poses a significant challenge, primarily due to the incomplete understanding of its etiology and pathogenesis.
Chen J   +5 more
europepmc   +4 more sources

IESS-FusionNet: Physiologically Inspired EEG-EMG Fusion with Linear Recurrent Attention for Infantile Epileptic Spasms Syndrome Detection [PDF]

open access: yesBioengineering
Infantile Epileptic Spasms Syndrome (IESS) is a devastating epileptic encephalopathy of infancy that carries a high risk of lifelong neurodevelopmental disability.
Junyuan Feng   +6 more
doaj   +2 more sources

Factors influencing efficacy and relapse of adrenocorticotropic hormone in infantile epileptic spasms syndrome

open access: yesEpilepsy and Behavior
Infantile epileptic spasms syndrome (IESS) is a severe epileptic condition characterized by persistent uncontrolled seizures, with some children experiencing recurrent seizures despite multiple pharmacological therapies. The prognostic risk factorsassociated with IESS remain unclear. This study aimed to evaluate the factors influencing the efficacy and
Dandan Mao, Wenguang Hu
exaly   +3 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Long-term developmental outcome in infantile epileptic spasms syndrome after high-dose prednisolone and vigabatrin treatment. [PDF]

open access: yesEpilepsia Open
Abstract Objective To evaluate long‐term developmental outcomes and identify independent predictors of favorable developmental outcomes at 3 years of age in children with infantile epileptic spasms syndrome (IESS) treated with a standardized stepwise vigabatrin and high‐dose prednisolone protocol.
Jang S   +5 more
europepmc   +2 more sources

Biochemical mechanisms in pathogenesis of infantile epileptic spasm syndrome

open access: yesSeizure: European Journal of Epilepsy, 2023
The molecular mechanisms leading to infantile epileptic spasm syndrome (IESS) remain obscure. The only common factor seems to be that the spasms are restricted to a limited period of infancy, during a certain maturational state. Here the current literature regarding the biochemical mechanisms of brain maturation in IESS is reviewed, and various ...
openaire   +3 more sources

A Rare Presentation Characterized by Epileptic Spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP Deficiency

open access: yesFrontiers in Genetics, 2022
Objective: To analyze the clinical feature, treatment, and prognosis of epileptic spasms (ES) in vitamin B6–dependent epilepsy, including patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 mutation, pyridox(am)ine-5′-phosphate oxidase ...
Xianru Jiao   +4 more
doaj   +1 more source

Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy

open access: yesBMC Neurology, 2022
Background Epileptic spasms are a devastating form of early infantile epileptic encephalopathy (EIEE) with various etiologies. Early diagnosis and a shorter lead time to treatment are crucial to stop the seizures and optimize the neurodevelopmental ...
Kullasate Sakpichaisakul   +6 more
doaj   +1 more source

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