Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants
Arquivos de Neuro-Psiquiatria, 2023 Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder.
Letícia Pereira de Brito Sampaio +7 more
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Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]
, 2017 Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K +17 more
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Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]
, 2017 Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
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EEG Functional Connectivity as a Marker of Evolution from Infantile Epileptic Spasms Syndrome to Lennox-Gastaut Syndrome [PDF]
Epilepsia, EarlyView.Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà +11 more
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Neurobiology of Disease, 2023 Children with Down syndrome (DS, trisomy of chromosome 21) have an increased risk of infantile spasms (IS). As an epileptic encephalopathy, IS may further impair cognitive function and exacerbate neurodevelopmental delays already present in children with
Li-Rong Shao +6 more
doaj +1 more source
Journal of Neuroscience, 2023 Infantile and epileptic spasms syndrome (IESS) is a childhood epilepsy syndrome characterized by infantile or late-onset spasms, abnormal neonatal EEG, and epilepsy. Few treatments exist for IESS, clinical outcomes are poor, and the molecular and circuit-
Rachael F. Ryner +8 more
semanticscholar +1 more source
Can hyper-synchrony in meditation lead to seizures? Similarities in meditative and epileptic brain states [PDF]
, 2014 Meditation is used worldwide by millions of people for relaxation and stress relief. Given sufficient practice, meditators may also experience a variety of altered states of consciousness.
Lindsay, Shane
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Cannabinoids in the treatment of epilepsy: current status and future prospects [PDF]
, 2020 Cannabidiol (CBD) is one of the prominent phytocannabinoids found in Cannabis sativa, differentiating from Δ9-tetrahydrocannabinol (THC) for its non-intoxicating profile and its antianxiety/antipsychotic effects.
Albini M. +6 more
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PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]
, 2019 BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY +8 more
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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]
, 2016 The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G +7 more
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