Objective: The present study analyzed the clinical features, treatment process and examined the ALDH7A1 mutations in three Chinese children with  Pyridoxine-dependent epilepsy (PDE).

Methods: Three patients whose clinical diagnosis and treatment process were carefully analyzed and were suspected PDE. ALDH7A1mutations by direct sequencing were screened.

Results: The seizures of the three patients were all resistant to multiple anticonvulsants. ALDH7A1 gene mutation analysis revealed two heterozygote mutations in each case: c.410G>A (p.G137E) and IVS11+1G>A in case 1, heter c.952 G>C (p.A318P) and heter c.965 C>T (p.A322V) in case 2, and heter c.902A>T (p.N301I) and IVS11+1G>A in case 3. Each mutation was transmitted from one of the patients. Except heter c.902A>T (p.N301I), the other four mutations have not been reported previously.

Conclusion: This is the first time to report cases of Chinese patients diagnosed with pyridoxine-dependent epilepsy by molecular genetic analysis. Definitely diagnosis of PDE for the three patients helped to guide the correct treatment.