Results 101 to 110 of about 88,373 (350)
Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, 2018 Forty three patients with supratentorial meningiomas were under examination. A significant increase of the level of autoantibodies to the GluR1 -subunit of the AMPA-receptors of glutamate was seen in the patients with meningiomas with epileptic syndrome.
V. N. Ochkolyas +2 more
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Neuronal oxidative injury in the development of the epileptic disease : a potential target for novel therapeutic approaches [PDF]
, 2011 Epileptic diseases affect about 50 million people in the world and approximately 30% of patients diagnosed with epilepsy are unresponsive to current medications.
Maio, Roberto di
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Phenotype-Based Screening of Synthetic Cannabinoids in a Dravet Syndrome Zebrafish Model. [PDF]
, 2020 Dravet syndrome is a catastrophic epilepsy of childhood, characterized by cognitive impairment, severe seizures, and increased risk for sudden unexplained death in epilepsy (SUDEP).
Anvar, Mana +3 more
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Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]
, 2000 Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Mechanism of Anticonvulsant Action of ACTH
Pediatric Neurology Briefs, 1998 The effects of adrenocorticotrophin hormone (ACTH) in 23 children with intractable epilepsies and its mechanism of action are reported from the Department of Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh, UK.
J Gordon Millichap
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra +5 more
wiley +1 more source
Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials [PDF]
, 2022 John Osborne +16 more
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Network Properties Revealed during Multi-Scale Calcium Imaging of Seizure Activity in Zebrafish. [PDF]
, 2019 Seizures are characterized by hypersynchronization of neuronal networks. Understanding these networks could provide a critical window for therapeutic control of recurrent seizure activity, i.e., epilepsy.
Baraban, Scott C, Liu, Jing
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