Published 2014 | Version v1.0.0
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Folinic Acid Responsive Epilepsy in Ohtahara Syndrome
Investigators at Queen Mary Hospital, Hong Kong, report a case of Ohtahara syndrome with transient folinic acid responsiveness but without evidence of antiquitin dysfunction in a girl later found to have a known STXBP1 mutation.
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2014When the item was originally created.