The rare genetic disorder identified in only 3 people worldwide

Monday, December 16, 2019 - 09:50 in Health & Medicine

A team of South Australian researchers has cracked a rare gene variant for a disorder that causes severe neurodegeneration in infants. The previously baffling condition sees a normal healthy child start to lose muscle tone and motor skills, ultimately losing the capacity to walk and use language. The children go on to experience epileptic encephalopathy … Continue reading The rare genetic disorder identified in only 3 people worldwide

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