https://www.selleckchem.com/pr....oducts/colivelin.htm
The patient and one of his older brothers were hemizygotes, and his mother was heterozygous. The patient was treated with haloperidol to control chorea and levetiracetam to control seizures. Six months after treatment, the proband was seizure-free, but showed little improvement in chorea and cognitive dysfunction. We describe a family with MLS caused by a novel frameshift mutation in the XK gene. The causes of the mild clinical presentation in the proband's mother require further investigation. We describe a family with MLS caused by
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