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Clinical and genetic features in pyridoxine-dependent epilepsy: a Chinese cohort study.

Developmental medicine and child neurology - 1 Mar 2020

Jiao Xianru, Xue Jiao, Gong Pan, Wu Ye, Zhang Yuehua, Jiang Yuwu, Yang Zhixian

Abstract excerpt

AIM: To characterize the clinical and genetic characteristics of a large cohort of patients with pyridoxine-dependent epilepsy (PDE). METHOD: We retrospectively collected clinical and genetic information of 33 (15 males, 18 females; mean [SD] age 4y 11mo [2y 5mo]; 1y 3mo-10y 4mo) patients with PDE from 31 unrelated families at a single centre. RESULTS: There were many types of seizures, with focal seizures in 32...

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PMID: 31737911
DOI: 10.1111/dmcn.14385

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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