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Phenotype and surgical management of drug-resistant epilepsy in patients with COL4A1 and COL4A2 variants
To summarize the clinical features of collagen type IV alpha 1/2 chain (COL4A)1/2-related epilepsy and the seizure outcomes of patients undergoing epilepsy surgery.
2024: Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol
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.
Research Paper: 2012 Degerliyurt
A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?
Research Paper: 2011 Meuwissen
ANTI-A B AUTOANTIBODIES IN THE CSF OF A PATIENT WITH CAA-RELATED INFLAMMATION: A CASE REPORT.