Results 111 to 120 of about 17,625 (287)
Methysergide and Infantile Spasms
Pediatric Neurology Briefs, 1989 A trial of antiadrenergic and antiseretonergic drugs in the treatment of 24 newly diagnosed and previously untreated infantile spasm patients is reported from the Epilepsy Research Center, Section of Neurophysiology, Department of Neurology, Baylor ...
J Gordon Millichap
doaj +1 more source
Incidence and phenotypes of childhood-onset genetic epilepsies:a prospective population-based national cohort [PDF]
, 2019 Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology,
Abdelnour +112 more
core +4 more sources
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Immunologic Evaluation in the Patients with Infantile Spasm [PDF]
, 2013 Eda Özaydın +4 more
openalex +1 more source
How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. [PDF]
, 2001 West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present ...
Baram, TZ, Brunson, KL, Eghbal-Ahmadi, M
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ACTH treatment of infantile spasms: mechanisms of its effects in modulation of neuronal excitability. [PDF]
, 2002 The efficacy of ACTH, particularly in high doses, for rapid and complete elimination of infantile spasms (IS) has been demonstrated in prospective controlled studies. However, the mechanisms for this efficacy remain unknown.
Avishai-Eliner, S +2 more
core +1 more source
The ketogenic diet alters microbiome‐metabolome profiles to improve West syndrome therapy
Pediatric Investigation, EarlyView.The ketogenic diet alleviates West syndrome by reshaping gut microbiota (increasing Bacteroides, Parabacteroides, and reducing Escherichia and Bifidobacterium), and modulating metabolites—including anticonvulsant lipids (e.g., capric acid), suppressed harmful lipids (e.g., 2‐methylbutyroylcarnitine), and amino acids and analogs (e.g., 3‐sulfinoalanine)—
Gan Xie +5 more
wiley +1 more source
Revista de Ciencias Médicas de Pinar del Río, 2012 El síndrome de West constituye una encefalopatía epiléptica asociada a una amplia diversidad de factores causales, cuyas bases genéticas hasta el momento no se han estudiado en Cuba. Con el objetivo de describir las principales características clínicas y
Anitery Travieso Téllez +2 more
doaj
The hairy elbows syndrome: clinical and neuroradiological findings. [PDF]
, 2008 The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces.
CORSELLO, Giovanni +6 more
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