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Article

Allelic variations of glut-1 deficiency syndrome: the chinese experience.

Pediatric neurology - 1 Jul 2012

Liu Yanyan, Bao Xinhua, Wang Dong, Fu Na, Zhang Xiaoying, Cao Guangna, Song Fuying, Wang Shuang, Zhang Yuehua, Qin Jiong, Yang Hong, Engelstad Kristin, De Vivo Darryl C, Wu Xiru

Abstract excerpt

Glucose transporter type 1 deficiency syndrome is characterized by infantile onset seizures, development delay, movement disorders, and acquired microcephaly. The phenotype includes allelic variants such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia of childhood wi...

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Identifiers

PMID: 22704013
DOI: 10.1016/j.pediatrneurol.2012.04.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22704013-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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