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PRRT2-related phenotypes in patients with a 16p11.2 deletion.

Distal Deletion,

All,

This study found that children with a 16p11.2 deletion including the PRRT2 gene are less likely to develop certain seizure and movement disorders (like benign infantile epilepsy and paroxysmal kinesigenic dyskinesia) than previously thought, which is important for families and doctors to know when interpreting genetic test results.

Phenotype,