Phenotypic characterization of COL4A1-related West syndrome
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DOI: 10.1016/j.eplepsyres.2020.106349
Abstract: 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… read more here.
Keywords: col4a1; phenotypic characterization; west syndrome; col4a1 related ... See more keywords