Reporting in Molecular Psychiatry, scientists at the Francis Crick Institute in London have unveiled a potential breakthrough in the treatment of CDKL5 deficiency disorder (CDD), a prevalent form of genetic epilepsy that affects children worldwide. CDD is characterized by debilitating seizures and developmental delays, with current treatment options limited to…

The largest genetic study of epilepsy to date, involving more than 150 researchers on four continents, has identified more than two dozen genetic regions that play a role in epilepsy development. The new findings, published today in Nature Genetics, have significantly advanced knowledge of the genetic underpinnings of the disease…

An international study has sequenced the genomes of 100 infants with unexplained seizures, along with their parents to better understand the potential strengths of early, broad genome sequencing for infantile epilepsy. The researchers used rapid genome sequencing to investigate the impact of an expedited genetic diagnosis on care for the…

A new, very precise, method of determining which brain cells lead to epileptic episodes in children has been developed by a team at University of Texas at Arlington and collaborators. Currently, epilepsy surgery is the safest and most effective treatment for these patients and offers a 50% chance of eliminating…

Researchers from Baylor College of Medicine looking for clues to the drivers of epileptic seizures in glioma patients have found that their tumors can interfere with the ability of surrounding neurons to handle potassium, an important ion in neuronal communication. Their findings, reported in the journal Neuron, provide important new…

One form of cheap and convenient RWD that is increasingly being collected comes from wearable devices such as smart watches, heart rate monitors, or continuous glucose monitors. Around 3.4 million people in the U.S. are diagnosed with epilepsy each year. Of these, around 30%, have uncontrolled epilepsy and struggle to…

A study in patients with epilepsy led by researchers at the medical genetics company Invitae shows that after genetic testing almost 50% of the patients changed their treatment and 75% reported improved outcomes as a result. Up to 40% of children and 23% of adults with epilepsy have a genetic…

Scientists from the University of Virginia (UVA) School of Medicine have developed a gene therapy to treat Dravet syndrome, a severe form of epilepsy, and potentially prolong survival for people with the condition. The gene therapy, developed by Stoke Therapeutics, is now in clinical trials. Because most Dravet syndrome cases are caused…

Researchers based at the University of Tübingen in Germany believe they have discovered a treatment for a rare kind of genetic epilepsy. KCNA2 epilepsy is caused by mutations in the KCNA2 gene on chromosome 1, which encodes a potassium channel in the brain. It is one of several severe early-onset…

A team of Australian researchers say they have discovered the underlying mechanism of a rare genetic mutation that can cause epilepsy. The team, from The University of Queensland (UQ), who were studying how brain cells perform, published their findings in Cell Reports. “NMDA receptor (NMDAR)-dependent Ca2+ influx underpins multiple forms…

Genetic Testing company Invitae and long-read sequencing provider Pacific Biosciences of California (PacBio) announced the launch of a research collaboration focused on the identification of clinically molecular markers to be used for the development of advanced epilepsy diagnostics. As a result of the collaboration, Invitae will expand its PacBio sequencing…

Researchers have discovered 11 genetic variants linked to rare childhood epilepsies by comparing genomic with phenotypic data. This study, which was published in the American Journal of Human Genetics, builds on previous work by the same team at the Children’s Hospital of Philadelphia also researching the genetics behind epilepsy in…

An analysis of electronic medical records data, carried out by researchers at the Children’s Hospital of Philadelphia, links symptoms of childhood epilepsy at certain ages with variation in specific genes. The researchers hope the information they collected will help clinicians give families more information about how their child’s epilepsy might…

BioMarin Pharmaceutical and Invitae have expanded the Behind the Seizure program to speed diagnoses and provide free genetic testing for children with unexplained seizures who are under age eight in the United States and Canada. Previously, the program only covered children under five. “As the number of treatments available or in…

Researchers in Ireland are one step closer to offering seamless personalized care to epilepsy patients nationwide, reporting that they have developed a genomics module within an epilepsy‐specific electronic patient record (EPR). The improved access to genomic data will allow clinical teams to understand the causes of a patient’s epilepsy and…