Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.seizure.2023.03.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
UBA5-epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes.
Epileptic Disord
September 2025
Unit of Child Neurology and Psychiatry, ASST-Spedali Civili of Brescia, Brescia, Italy.
Protein ufymilation is a post-translational modification implicated in the regulation of several cellular processes. Biallelic variants in UBA5 causing a functional alteration of its protein product have been associated with early-onset epileptic encephalopathy 44 (EIEE44), a rare disease for which 28 patients have been described in the literature at present. We here report on the clinical and detailed EEG phenotype of a novel patient affected by EIEE44.
View Article and Find Full Text PDFCoalescent theory of the ψ directionality index.
G3 (Bethesda)
September 2025
Department of Biology, Stanford University, Stanford, CA 94305, USA.
The ψ directionality index was introduced by Peter & Slatkin (Evolution 67: 3274-3289, 2013) to infer the direction of range expansions from single-nucleotide polymorphism variation. Computed from the joint site frequency spectrum for two populations, ψ uses shared genetic variants to measure the difference in the amount of genetic drift experienced by the populations, associating excess drift with greater distance from the origin of the range expansion. Although ψ has been successfully applied in natural populations, its statistical properties have not been well understood.
View Article and Find Full Text PDFRare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.
Genet Med Open
July 2025
Faculty of Biology Medicine and Health, University of Manchester, United Kingdom.
Purpose: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder. This study aimed to analyze the genotype distribution of FCS-causing genes in the United Kingdom.
Methods: Data were anonymously collated from 2 genetic testing laboratories providing national genetic diagnosis services for severe hypertriglyceridemia in the United Kingdom.
Acute profound lactic alkalosis associated with compound heterozygosity in a previously healthy 6-year-old female.
Mol Genet Metab Rep
December 2025
Pediatric Critical Care Medicine, Department of Pediatrics NewYork-Presbyterian Morgan Stanley Children's Hospital, Columbia University Medical Center, New York, NY, United States of America.
encodes NADH: ubiquinone oxidoreductase core subunit V1, a key component of mitochondrial Complex 1. Biallelic pathogenic variants in this gene produce a broad and variable phenotypic spectrum in affected individuals, including ophthalmoplegia, developmental delays, brain imaging abnormalities, and recurrent episodes of emesis and lactic acidemia. We report female siblings compound heterozygous for two missense variants (Arg40Gln, Val245Met) in with unusual presentations of this condition.
View Article and Find Full Text PDFMolecular genetics and therapeutic development for GNE myopathy.
J Hum Genet
September 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
GNE myopathy is an autosomal recessive distal myopathy resulting from biallelic pathogenic variants in the GNE gene, a key enzyme in sialic acid biosynthesis. Although most pathogenic variants are missense variants, recent advances have enabled the identification of copy number variations, deep intronic variants, and regulatory changes in the promoter region, significantly enhancing diagnostic accuracy. Progress in genetic diagnostics now allows detection of rare and complex variants.
View Article and Find Full Text PDF