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'My adult daughter can't ever live alone - so I turned her bedroom door into an apartment entrance'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 ...
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