Rapid, irregular heartbeats brought on by exercise or emotional stress can cause fainting or seizures; KCNJ2 and RYR2 mutations disrupt ion channels and calcium.
Rare genetic mutations can disrupt how the body clears glutaric acid from the bloodstream. The page covers diagnosis, carrier testing and treatment research.
If IVF egg retrieval finds no eggs despite normal follicle growth, empty follicle syndrome may be the cause. ZP1, ZP3 and LHCGR mutations are linked to it.
Seizures that follow a stroke around the time of birth are assessed with MRI or CT; epileptic spasms as an outcome marker and the place of a genetic work-up are reviewed.
Abnormal transthyretin builds up in nerves and organs, bringing numbness, pain and weakness; TTR testing identifies the subtype and supports preimplantation testing.
Discover Familial Atypical Hemolytic-Uremic Syndrome, its diagnosis, and the crucial role of genetic testing in identifying risk factors and guiding treatment for improved…
Brain tissue that is reduced in size or underdeveloped can bring cognitive impairment, motor dysfunction and seizures; MRI, CT and DNA testing narrow the cause.
Discover the role of genetic testing in diagnosing generalized myoclonic seizures, enabling personalized treatment plans, and improving patient outcomes in epilepsy syndromes.