Folinic Acid Responsive Epilepsy in Ohtahara Syndrome
DOI:
https://doi.org/10.15844/pedneurbriefs-28-3-5Keywords:
STXBP1 Mutations, Folinic Acid, Hong Kong Patient’s SeizuresAbstract
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.Published
2014-03-01
Issue
Section
Metabolic Disorders
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