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Atypical neurodevelopment caused by de novo genetic mutations in percentage of patients with ACs

Research conducted by Dr. Kristopher Kahle, Dr. Adam Kundishora, and the Kahle Laboratory found that a significant number of cerebral Arachnoid Cyst (AC) cases have developmental conditions caused by novel genetic variants. These mutations are seen in up to 16% of AC cases, revealing that damaging de novo variants are enriched in Arachnoid Cyst patients to a greater extent than in healthy individuals. The indicated effect of ACs on neurodevelopmental pathology suggests the need for further genetic testing and analysis, and reshapes the use of treatment modalities when approaching structural brain disease. The full research paper, published by Nature Medicine, can be accessed here, and can also be found below, as shared online.

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