ArticleBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences2024
[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].
Article in Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Treatment of pediatric epilepsy.Pediatric investigation · 2026Review
- Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.Frontiers in neurology · 2025Article
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Authors and funding
6 authors.
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Abstract
objectiveTo analyze the clinical diagnosis, treatment, and prognosis of the patients with pyridoxine-dependent epilepsy (PDE) characterized by infantile epileptic spasm syndrome (IESS).
methodsA total of 75 PDE patients with
resultsAmong the five patients diagnosed with PDE, three were female and two were male, and the phenotype was consistent with IESS. The age at the last follow-up was from one year and 3 months to 11 years and 9 months. All the five cases were delivered at term. Two cases had anoxia and asphyxia at birth, and three cases had normal birth history. The onset age of seizure ranged from one day to 4 months after birth. One case presented with epileptic spasms (ES), and three cases presented with focal seizure and ES. The other patient was started with ES, followed by multiple seizure types, including focal seizure and generalized tonic-clonic seizure, and developed epileptic status which caused secondary brain injury. The interictal EEG results showed hypsarrhythmia in three cases, generalized and multifocal discharges in one cases, and multifocal discharges in one case. No abnormalities were found in brain MRI in three cases, and secondary cerebral atrophy and hydrocephalus were observed in two cases during the course of the disease. Gene analysis confirmed that the five patients carried compound heterozygous variants of
conclusionIESS could be a rare phenotype of PDE. High doses of pyridoxine can control or reduce the frequency of seizures. Delayed diagnosis and treatment, secondary brain injury, and the genotype, especially deletions variants, were associated with poor prognosis.
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