PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
24 auth. S. Heron, B. Grinton, S. Kivity, Z. Afawi, S. Zuberi, James N. Hughes, Clair Pridmore, B. Hodgson, Xenia Iona, L. Sadleir, ... J. Pelekanos, E. Herlenius, H. Goldberg-Stern, H. Bassan, E. Haan, A. Korczyn, A. Gardner, M. Corbett, J. Gécz, Paul Q. Thomas, J. Mulley, S. Berkovic, I. Scheffer, L. Dibbens