[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].

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Article

[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 18 Oct 2024

Jiao Xianru, Gong Pan, Niu Yue, Xu Zhao, Zhou Zongpu, Yang Zhixian

Abstract excerpt

OBJECTIVE: To analyze the clinical diagnosis, treatment, and prognosis of the patients with pyridoxine-dependent epilepsy (PDE) characterized by infantile epileptic spasm syndrome (IESS). METHODS: A total of 75 PDE patients with ALDH7A1 variants were diagnosed at the Department of Pediatrics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024, and five PDE...

Topics

Humans
Female
Male
Infant
Phenotype
Electroencephalography
Spasms, Infantile
Epilepsy
Magnetic Resonance Imaging
Aldehyde Dehydrogenase
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child

Brain

Child, Preschool

Epileptic Syndromes

Prognosis

Seizures

Pyridoxine

Source

Open in PubMed Open full text

Identifiers

PMID: 39397454
PMCID: PMC11480537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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