CDKL5, one of the five members of the CDKL family of genes, is important for proper neurodevelopment and associated with ...
Investigators in the laboratory of Gemma Carvill, Ph.D., assistant professor in the Ken and Ruth Davee Department of Neurology Division of Epilepsy/Clinical Neurophysiology, have discovered novel ...
Irish Mirror on MSN5d
Teen with rare genetic disorder died due to brain bleed suffered in fall after epileptic seizure, inquest hearsThe mother of Sandra Kuzmecka wiped back tears as she heard it was clear that the girl had been lovingly cared for throughout ...
A simple genomics blood test could improve treatment and care for childhood epilepsy, but more investment is needed to make access fair and securely join up the data, finds a new study.
New Approach to Epilepsy Treatment Combines Genetics and Brain Mapping Nov. 26, 2024 — Researchers have developed a new method called MoPEDE, which has the potential to improve epilepsy treatment.
Audacy on MSN6d
Connecticut Leads the Way in Rare Disease Genetic Testing as We Enter Cerebral Palsy Awareness MonthMarch is Cerebral Palsy Awareness Month. Dr. Paul Kruszka is Chief Medical Officer at GeneDx, a commercial laboratory ...
The FDA has granted Breakthrough Therapy designation to radiprodil for the treatment of seizures associated with GRIN-related neurodevelopmental disorder with GoF mutations.
Many childhood epilepsies are caused by genetics. With over 1,000 epilepsy genes identified, knowing which (if any) genetic variants are responsible for a child’s epilepsy can help to guide ...
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