Published 2014 | Version v1.0.0
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Folinic Acid Responsive Epilepsy in Ohtahara Syndrome

Abstract

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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PNB-2014-28-3-5

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Created
2014
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