A mum who lost her son suddenly is raising money to implement new technology to improve epilepsy care across the country.
An inquest into the girl’s death at Dublin District Coroner’s Court on Monday heard that she was diagnosed with a previously unknown rare genetic disorder – KBG Syndrome – while tests were being ...
A young Laois teenager, who had an undiagnosed rare genetic disorder, suffered fatal bleeding in her brain following a fall during an epileptic seizure at her home, an inquest has heard.
KBG syndrome is a rare genetic condition caused by ANKRD11 mutations, often presenting with distinctive syndromic features, including macrodontia and skeletal anomalies. This case highlights a teenage ...