Functional analyses indicated that the de novo variant in AP2M1 found in four patients affects clathrin-mediated endocytosis and synaptic vesicle recycling.
Investigators used gene panel sequence data to look at rare de novo variant frequencies in potential risk genes for neurodevelopmental disorders with epilepsy.
The study, which is recruiting 1,130 children with undiagnosed genetic diseases, is testing two web-based interactive tools.
Free genetic testing on a broad gene panel is available to children, from birth to five years old, if they've had an unprovoked seizure.
The five-year deal, which is being funded by UCB, will focus in particular on epilepsy patients who do not respond to currently available treatments.
Using data for nearly 45,000 epilepsy cases and controls, researchers identified loci contributing to focal epilepsy, genetic generalized epilepsy, or unclassified epilepsy.
A re-analysis of genomic tests for 309 children with epilepsy altered diagnoses for more than a third of patients with a previously reported genetic variant.
British genomics interpretation software vendor Congenica will help researchers analyze WGS and WES in search of a genetic cause for sudden unexpected death in epilepsy.
Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.
Researchers used WGS to diagnose the patients when previous testing couldn't find an underlying genetic cause for their symptoms.
The chief executive of the National Health Service in England is to call for tumor-agnostic drugs to be "fast-tracked," according to the Times.
Researchers in Australia are sequencing the Wollemi pine tree to try to protect it from extinction, Australia's ABC News reports.
Computerworld ranks Illumina as one of the top midsize organizations to work at in IT.
In Genome Research this week: links between biological aging and mutations affecting epigenetic regulators; long-read sequencing-based strategy to map chromatin accessibility; and more.