Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation

Winnie W Y Tso, Anna K Y Kwong, Cheuk Wing Fung, Virginia C N Wong
Pediatric Neurology 2014, 50 (2): 177-80

BACKGROUND: Ohtahara syndrome is a severe condition with early onset of recurrent unprovoked seizures associated with abnormal electroencephalography and global developmental delay. Folinic acid-responsive seizures are treatable causes of Ohtahara syndrome, which is thought to be due to recessive mutations in the ALDH7A1 gene, resulting in deficiency of antiquitin.

METHOD: Here we report a girl with Ohtahara syndrome who exhibited transient folinic acid responsiveness but without evidence of antiquitin dysfunction.

RESULTS: She was later found to have a known missense mutation (c.1439 C > T, p.P480 L) in exon 16 of the STXBP1 gene.

CONCLUSION: For infants presenting with Ohtahara syndrome with responsiveness to folinic acid and negative antiquitin deficiency analyses, genetic testing for other possible causative genes such as STXBP1 mutation is recommended.

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