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.
Highlights
At day 3 of life she had a cluster of epileptic spasms lasting less than 2 min
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation
In addition to Ohtahara syndrome, STXBP1 mutations are associated with West syndrome, and learning disabilities
Summary
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. At day 3 of life she had a cluster of epileptic spasms lasting less than 2 min. Ultrasound showed grade 1 intraventricular hemorrhage, but MRI was normal. EEG showed electrographic seizures from both frontal and anterior temporal regions without clinical seizures, unresponsive to 100mg iv pyridoxine.
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