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.

Keywords

• stxbp1 mutations
• folinic acid
• hong kong patient’s seizures