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Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examinedExpand
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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. WeExpand
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Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy
Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature mortality. The preciseExpand
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Genotype phenotype associations across the voltage-gated sodium channel family
Mutations in genes encoding voltage-gated sodium channels have emerged as the most clinically relevant genes associated with epilepsy, cardiac conduction defects, skeletal muscle channelopathies andExpand
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The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy
Aim  Genetic testing in the epilepsies is becoming an increasingly accessible clinical tool. Mutations in the sodium channel alpha 1 subunit (SCN1A) gene are most notably associated with DravetExpand
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Iron genes, iron load and risk of Alzheimer’s disease
Background: Compound heterozygotes of the haemochromatosis gene (HFE) variants, H63D and C282Y, have raised transferrin saturation compared with that in the wild type. In the cohort of the OxfordExpand
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Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.
BACKGROUND Mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel SCN1A are associated with several epilepsy syndromes. These range from severe phenotypes includingExpand
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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes intoExpand
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SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome
Classic Dravet syndrome is also termed severe myoclonic epilepsy of infancy (SMEI). There are subtle phenotypic variants of Dravet which may have all the features of the syndrome except one, such asExpand
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The Effect of Moxidectin Treatment on the Equine Hind Gut Microbiome, Metabonome and Feed Fermentation Kinetics in Horses with Very Low Parasite Burdens
Seventeen horses, mean 12 ± 3.5 years, kept at pasture, with haylage provided and no concentrates. Faecal Egg Counts were conducted September 2015‐March 2016, no eggs seen, no anthelmintic given.Expand
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