Pyridoxine dependent epilepsy (PDE) is an autosomal recessive disorder and a rare treatable congenital metabolic abnormality. The typical manifestations of PDE are uncontrollable convulsive seizures in the neonatal period and early infancy, often with persistent status epilepticus, and failure to control seizures with various antiepileptic drugs, with good response to high-dose vitamin B6 (pyridoxine) therapy. The traditional clinical criteria for diagnosis of PDE include: seizures not responding to antiepileptic drugs, good response to high-dose vitamin B6 therapy, complete seizure control with vitamin B6 alone, and recurrent seizures after withdrawal of the drug. For a long time in the past, most cases were missed because of the difficulty of clinical diagnosis (because the disease starts with seizures, which often leads to the administration of antiepileptic drugs at the beginning, or to the administration of conventional doses instead of high-dose vitamin B6 therapy with no observed effect) and the lack of specific tests. For the missed cases, the opportunity for high-dose vitamin B6 lifelong supplementation to control seizures is missed, and the child suffers from unwanted side effects of multiple antiepileptic drug therapy, leading to misdiagnosis or eventual development of refractory epilepsy or epileptic encephalopathy, which ultimately leads to higher mortality and disability rates. Therefore, it is worthwhile to try this treatment under medical supervision in cases with early onset epilepsy, where multiple antiepileptic drugs have failed, and where adequate doses of vitamin B6 have never been given before. In 2006, the causative gene ALDH7A1 was identified, thus enabling a molecular genetic diagnosis of the disease. Once high doses of vitamin B6 have been tried, ALDH7A1 gene analysis can be considered to help confirm the diagnosis (the author is currently able to help children with suspected disease to test for this gene free of charge from a scientific perspective). Once the disease is diagnosed, patients can be clearly instructed to discontinue all antiepileptic drugs and must be supplemented with high-dose vitamin B6 for life; there are no clear recommendations for long-term treatment, but the recommended general therapeutic dose is 15-30 mg/kg body weight/day for infants, up to 200 mg/day for neonates, and 500 mg/day for adults.d These doses are safe for long-term treatment. At present, the author has diagnosed three children through clinical screening and ALDH7A1 genetic testing, which is the first case confirmed by genetic testing in China. One of the three cases was hospitalized several times for frequent seizures, and each time was given ganglioside infusion for about 10 days, and almost every seizure was controlled on the first day of the infusion until discharge, but relapsed soon after discharge, so the parents inferred that “After careful questioning and checking the infusion list of the local hospital, it was found that each time when the ganglioside was about to be infused, a group of liquid infusion was given (explanation). Another child was 1 year and 10 months old when he came to the hospital, and mentioned that he had been hospitalized for more than 10 times in the area. “However, since anticonvulsants were also administered intravenously and oral antiepileptic drugs were adjusted during the same period, the seizure control was not attributed to the effect of vitamin B6, and each time after discharge from the hospital, the child either did not take oral vitamin B6 or only took oral vitamin B6 2 to 3 tablets daily, with subsequent seizure recurrence in all cases. The seizures were successfully controlled in all three children on vitamin B6 at a dose of 150-180 mg per day (i.e., 15-18 tablets), with varying degrees of improvement in mental-motor development. It must be emphasized that the prognosis of this disease varies greatly among individuals, and the factors influencing the prognosis are complex, including the early or late clinical onset, the promptness of effective treatment, and the unknown relationship between the ALDH7A1 genotype and the neurodevelopmental phenotype. Although normal intelligence has been reported after treatment, most patients are left with some degree of neurodevelopmental impairment despite seizure control with vitamin B6. Second, pyridoxine responsive epilepsy (pyridoxine responsive epilepsy) Vitamin B6 is a coenzyme of glutamate decarboxylase. γ-aminobutyric acid, an important inhibitory neurotransmitter in the central nervous system, is generated from glutamate decarboxylation under the action of glutamate decarboxylase. when vitamin B6 is deficient, the enzyme activity decreases, resulting in reduced synthesis of γ-aminobutyric acid. causing seizures. As early as 1951, foreign scholars discovered that vitamin B6 supplementation could control or reduce seizures, and subsequent studies by Japanese scholars further confirmed the therapeutic role of vitamin B6 in epilepsy, involving mainly infantile spasms, which were treated with high doses of vitamin B6 alone with an efficiency of up to 13.9%. When the treatment dose was increased from 30 mg to 100 mg/day, a proportional clinical improvement in seizures was also observed, and when the dose was increased again to 100-400 mg/day, the clinical improvement was even more significant, while the response to treatment at lower doses (10-30 mg/day) was not significant. Treatment should be observed for at least 10 days to determine efficacy. The author was also surprised to find several cases of infantile spasms in which high-dose vitamin B6 was effective, but no abnormalities were found in the ALDH7A1 gene mutation screening, thus confirming that these children were pyridoxine-responsive rather than dependent epilepsy. The duration of vitamin B6 administration in such children depends on the clinical seizures and does not necessarily require lifelong supplementation.