Results 21 to 30 of about 15,690 (256)

Investigations in West Syndrome: Which, When and Why

open access: yesPediatric Neurology Briefs, 2015
Investigators from the National Infantile Spasms Consortium (NISC) in the USA studied the etiology of new-onset infantile spasms (IS) in 251 infants (mean age at onset, 7.1, range, 0.1-22.7 months).
Richard E Appleton
doaj   +1 more source

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry

open access: yesFrontiers in Neurology, 2021
Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited.
Rima Nabbout   +30 more
doaj   +1 more source

Efficacy and tolerability of the Galanin Analog NAX 5055 in the multiple-hit rat model of symptomatic infantile spasms [PDF]

open access: yes, 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
core   +1 more source

Genetic Classification of Infantile Spasms

open access: yesPediatric 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
doaj   +1 more source

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

open access: yes, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
PARISI, Pasquale   +7 more
core   +1 more source

Vigabatrin therapy implicates neocortical high frequency oscillations in an animal model of infantile spasms

open access: yesNeurobiology 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
doaj   +1 more source

The Epidemiology of Infantile Spasms [PDF]

open access: yesCanadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2001
Objective:The aim of this study was to estimate population based incidence rates for infantile spasms (IS) and to study our clinical impression that the incidence of IS has recently decreased in the Canadian Provinces of Nova Scotia and Prince Edward Island.Methods:Birth cohorts from 1978 to 1998, identified through the hospital health records, EEG ...
P M, Brna   +3 more
openaire   +2 more sources

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]

open access: yes, 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
core   +2 more sources

A team science approach to discover novel targets for infantile spasms (IS)

open access: yesEpilepsia 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
doaj   +1 more source

Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]

open access: yes, 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
core   +1 more source

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