epilepsy

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.

Q-State Biosciences, which focuses on neurologic disorders, will work closely with WuXi NextCode to relaunch Claritas' exome assays.

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Customers might want to consider what they might learn about their risk of diseases like Alzheimer's before snagging the genetic testing kits that are on many gift guides this year, NJ.com writes.

The Wall Street Journal reports there is uncertainty surrounding whether He Jiankui's embryo editing did what he said it did.

Stat News reports that the pause on procuring fetal tissue for intramural US National Institutes of Health research will soon affect additional labs there.

In Nature this week: genomic analysis of the invasive fall webworm, amp of constrained coding regions within the human genome, and more.