Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
Division of Paediatric Neurology, Developmental Behavioural Paediatrics and Neurohabilitation, Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong.
Pediatr Neurol. 2014 Feb;50(2):177-80. doi: 10.1016/j.pediatrneurol.2013.10.006. Epub 2013 Oct 24.
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.
Here we report a girl with Ohtahara syndrome who exhibited transient folinic acid responsiveness but without evidence of antiquitin dysfunction.
She was later found to have a known missense mutation (c.1439 C > T, p.P480 L) in exon 16 of the STXBP1 gene.
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.
大田原综合征是一种严重的疾病，具有早期反复无诱因癫痫发作、脑电图异常和全面发育迟缓的特点。叶酸反应性癫痫是大田原综合征的一种可治疗病因，据认为是由于 ALDH7A1 基因突变导致抗奇丁缺乏所致。
本研究报道了一例大田原综合征患儿，表现为短暂的叶酸反应性，但无抗奇丁功能障碍的证据。
后来发现她携带 STXBP1 基因第 16 外显子的已知错义突变（c.1439 C > T，p.P480 L）。
对于表现为大田原综合征、叶酸反应性癫痫且抗奇丁缺乏分析为阴性的婴儿，建议进行其他可能的致病基因，如 STXBP1 突变的基因检测。
