Results 21 to 30 of about 14,532 (228)
Русский журнал детской неврологии, 2015 Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and ...
K. Yu. Mukhin, M. B. Mironov
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Frontiers in Neurology, 2021 Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene.
Go Kawano +9 more
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Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. [PDF]
, 2011 Infantile spasms is an epileptic encephalopathy of early infancy with specific clinical and electroencephalographic (EEG) features, limited treatment options, and a poor prognosis.
Arnason, Barry GW +10 more
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A pulse rapamycin therapy for infantile spasms and associated cognitive decline
Neurobiology of Disease, 2011 Infantile spasms are seizures manifesting within a spectrum of epileptic encephalopathies of infancy that often lead to cognitive impairment. Their current therapies, including adrenocorticotropic hormone (ACTH), high dose steroids, or vigabatrin, are ...
Emmanuel Raffo +4 more
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Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]
, 2014 Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
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Frontiers 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
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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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Investigations in West Syndrome: Which, When and Why
Pediatric 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
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DNM1 encephalopathy: A new disease of vesicle fission. [PDF]
, 2017 ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A +38 more
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The Epidemiology of Infantile Spasms [PDF]
Canadian 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 ...
Paula Brna +3 more
openaire +3 more sources