Doctors eventually diagnosed Leah with chromodomain helicase DNA-binding protein 2 (CHD2) myoclonic encephalopathy. She was one of 44 people in the world with that diagnosis at the time ...

A 20-year-old woman presented to a specialist epilepsy center with seizures, myoclonus, ataxia, and impaired executive functions. She was born to unrelated parents, had febrile seizures in infancy ...