COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there is no consensus on management and preventative strategies.

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation

Cortical malformations and COL4A1 mutation: Three new cases

Further refinement of COL4A1 and COL4A2 related cortical malformations

COL4A1 and fetal vascular origins of schizencephaly

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly