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Article

Phenotypic characterization of COL4A1-related West syndrome.

Epilepsy research - 1 Aug 2020

Wang Qiu-Hong, Zou Li-Ping, Zhang Meng-Na, Wang Yang-Yang, Lu Qian, Shen Yan-Wen, He Wen, Chen Hui-Min, Luo Xiao-Mei, Wang Jing, Zhang Tian-Tian

Abstract excerpt

Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, in addition to other autosomal dominant hereditary diseases. Patients with COL4A1 variants can present with epilepsy, most commonly focal epilepsy. In this paper, we present five patients, three of whom were examined by the authors, and two who were previously reported. Clinically, these...

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PMID: 32446163
DOI: 10.1016/j.eplepsyres.2020.106349

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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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