BCKDK Gene Mutations Linked to Autism and Developmental Delays
This study looked at four children who had mutations in a specific gene called BCKDK.
This hub covers epilepsy EEG and MRI: how EEGs and brain imaging help doctors understand seizure patterns and possible causes. Clear explanations of common findings and what research suggests.
Yes. EEGs are a snapshot. Some people need repeat EEGs, sleep-deprived EEGs, or long-term monitoring.
Not always. It raises suspicion and risk, but diagnosis still depends on the full story.
To look for structural causes like scars, malformations, tumors, and stroke-related changes, which can guide treatment.
An inpatient or extended study that records EEG and video together to match symptoms to brain activity.
This study looked at four children who had mutations in a specific gene called BCKDK.
Researchers conducted a systematic review to explore how advanced imaging techniques can identify neuro-inflammatory biomarkers in people with epilepsy who do not respond to medication.
This study looked at how well ultra-high field 7T MRI works for children with drug-resistant focal epilepsy.
Researchers studied a method called transcranial temporal interference stimulation (tTIS) to see how it could help people with neurological and psychiatric disorders.
This study focused on a genetic variant in a gene called CCDC82 and its link to neurodevelopmental disorders, particularly in a young boy with serious health issues.
This study focused on children with tuberous sclerosis complex (TSC) who experience epilepsy.
This study looked at people with drug-resistant focal epilepsy who had negative MRI results, meaning no visible lesions were found on their scans.
This study focused on finding better ways to detect focal cortical dysplasia type II (FCD type II) in children, a condition that can cause severe epilepsy that doesn’t respond to medication.
Researchers studied how to better locate the area in the brain responsible for causing seizures in people with epilepsy, which is crucial for successful epilepsy surgery.