Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Avenue Magida Boulila, 3029 Sfax, Tunisia.
Mol Biol Rep. 2013 Jan;40(1):487-90. doi: 10.1007/s11033-012-2084-z. Epub 2012 Oct 10.
Pyridoxine-dependent Epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. It is characterized by seizures that are resistant to common anticonvulsants, but patients respond well to the administration of pyridoxine. PDE is caused by ALDH7A1 genetic defect. Here, we report the disease-causative variant in the ALDH7A1 gene in two affected Tunisian families. Direct sequencing analysis revealed a novel missense mutation c.1364T>C (p.Leu455Pro). Using bioinformatic tools we suggested that this variant may have deleterious effects on ALDH7A1 protein structure and function.
吡哆醇依赖性癫痫（PDE）是一种罕见的常染色体隐性遗传疾病，可导致新生儿和婴儿的难治性癫痫发作。其特征是对常用抗癫痫药物有抗药性，但患者对吡哆醇的治疗反应良好。PDE 是由 ALDH7A1 基因突变引起的。在这里，我们报告了两个受影响的突尼斯家庭中 ALDH7A1 基因的致病变体。直接测序分析显示了一种新的错义突变 c.1364T>C（p.Leu455Pro）。我们使用生物信息学工具表明，这种变体可能对 ALDH7A1 蛋白结构和功能具有有害影响。
