Genetic Classification of Infantile Spasms
Pediatric Neurology Briefs, 2012 Researchers from University of Washington, Seattle, WA, and Washington University, St Louis, MO propose a genetic and biologic classification of infantile spasms. Infantile spasms are of 2 main groups: those with known or unknown predisposing genotypes.
J Gordon Millichap
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Efficacy and tolerability of the Galanin Analog NAX 5055 in the multiple-hit rat model of symptomatic infantile spasms [PDF]
, 2013 Infantile spasms are seizures manifesting in infantile epileptic encephalopathies that are associated with poor epilepsy and cognitive outcomes. The current therapies are not always effective or are associated with serious side effects.
Galanopoulou, A.S. +4 more
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Neurobiology of Disease, 2015 Abnormal high frequency oscillations (HFOs) in EEG recordings are thought to be reflections of mechanisms responsible for focal seizure generation in the temporal lobe and neocortex. HFOs have also been recorded in patients and animal models of infantile
James D. Frost, Jr. +5 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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A team science approach to discover novel targets for infantile spasms (IS)
Epilepsia Open, 2021 Infantile spasms (IS) is a devastating epilepsy syndrome that typically begins in the first year of life. Symptoms consist of stereotypical spasms, developmental delay, and electroencephalogram (EEG) that may demonstrate Hypsarhythmia.
The CURE Infantile Spasms Consortium, CURE Staff +2 more
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Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]
, 2017 PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review.
Ibekwe, RC +2 more
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The early electroclinical manifestations of infantile spasms: A video EEG study
Annals of Indian Academy of Neurology, 2016 Purpose: Infantile spasms are described as flexor extensor and mixed; but more features of their semiology and ictal electroencephalography (EEG) changes are sparse in the literature.
Mary Iype +4 more
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A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]
, 2014 Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu +10 more
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Limited efficacy of zonisamide in the treatment of refractory infantile spasms
Epilepsia Open, 2020 A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of ...
Shaun A. Hussain +7 more
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Short term outcomes of topiramate monotherapy as a first-line treatment in newly diagnosed West syndrome [PDF]
, 2011 PurposeTo investigate the efficacy of topiramate monotherapy in West syndrome prospectively.MethodsThe study population included 28 patients (15 male and 13 female children aged 2 to 18 months) diagnosed with West syndrome. After a 2-week baseline period
Gyu Min Lee +3 more
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