Angelman Syndrome Explained | UBE3A Gene скачать в хорошем качестве

Angelman Syndrome Explained | UBE3A Gene

Angelman Syndrome is a rare neurogenetic disorder caused by loss of function of the UBE3A gene on the maternal chromosome. It leads to developmental delays, speech impairment, seizures, and movement difficulties. 🧠 Key Features of Angelman Syndrome: • Severe speech delay or no speech • Seizures and abnormal EEG • Frequent laughter, happy demeanor • Sleep disturbances • Intellectual disability This condition is often diagnosed through genetic testing, though some cases may return inconclusive and need expert genetic evaluation. ⚠️ Angelman Syndrome is not inherited in most cases, but early diagnosis and therapy can drastically improve developmental outcomes. 👨‍⚕️ This video simplifies the genetic science behind Angelman Syndrome, its symptoms, diagnosis process, and how families can manage it with the right clinical guidance. 📍For more insights into rare genetic conditions, follow The Purple Gene Clinic.