This hub covers epilepsy genetics: how gene changes can contribute to seizures (often in children). We translate studies on testing, results like VUS, and what findings may change for care.
No. It’s common in pediatrics, but adults can benefit from genetic testing, too, especially with unclear diagnosis or family history.
Sometimes. For certain conditions, results can guide medication choice, diet therapies, or referral decisions.
It usually means “not enough evidence yet.” It shouldn’t be treated as a definite cause, but it can be reclassified over time.
Not necessarily. Testing can miss some variants, and new gene links are still being discovered.
A recent study looked at how doctors in Germany, Austria, and Switzerland treat a serious condition called status epilepticus (SE), which is a prolonged seizure that can be life-threatening.
Researchers studied the effectiveness of the ketogenic diet (KD) for managing epileptic spasms (ES) in children.
This study focused on understanding how changes in the KCNQ2 gene, which affects a specific potassium channel in the brain, relate to the developmental and seizure characteristics in children with KCNQ2 developmental and epileptic encephalopathy (DEE).
This study focused on adults with idiopathic generalized epilepsy (IGE), a type of epilepsy that can cause seizures without a clear cause.
This study focused on childhood epilepsy in Cameroon, examining the clinical patterns, factors that predict seizure control, and the impact on education.
Researchers studied the effects of daily intermittent fasting (IF) on mice with absence epilepsy, a type of epilepsy that causes brief seizures and loss of consciousness.
Researchers studied how effective a specific brain stimulation treatment is for children with difficult-to-treat epilepsy.
This study looked at how effective vagus nerve stimulation (VNS) is for treating drug-resistant epilepsy (DRE) in children.
This study looked at the MEFV gene and its possible connection to drug-resistant epilepsy (DRE) in children.