epilepsy

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.

Using exome sequences for 6,753 parent-child trios, researchers saw genes with increased de novo variant burdens in neurodevelopmental disorders with epilepsy.

This Week in PLOS

In PLOS this week: links between gut microbiome and colorectal cancer mutations, targeted sequencing uncovers genetic susceptibilities to epilepsy in Koreans, and more.

This Week in PLOS

In PLOS this week: Huntington's disease modifiers, possible new Chikungunya virus subgroup, and more.

Irish rare disease research center FutureNeuro is partnering with software vendor Congenica to bring sequencing to the point of care for genetic epilepsies.

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Researchers may experience the effects of the government shutdown for a while, the Los Angeles Times reports.

A new study finds that the majority of patients at a Tijuana clinic received a diagnosis after first-line genome sequencing, the San Diego Union-Tribune reports.

NPR reports that researchers in Italy are testing a gene drive aimed at controlling mosquito populations.

In Genome Biology this week: post-transcriptional modification-based stratification of glioblastoma, single-cell analysis of gene expression and methylation in human iPSCs, and more.