PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome Sarah E. Heron, Bronwyn E. Grinton,

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PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree L. Hodgson, Xenia Iona, Lynette G. Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos D. Korczyn, Alison E. Gardner, Mark A. Corbett, Jozef Gécz, Paul Q. Thomas, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens The American Journal of Human Genetics Volume 90, Issue 1, Pages 152-160 (January 2012) DOI: 10.1016/j.ajhg.2011.12.003 Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 1 Locations of the Five Mutations in the PRRT2 Sequence (A) Sequence traces showing the five mutations identified in the 19 BFIE- and ICCA-affected families are compared to wild-type traces. (B) Gene structure of the coding exons of PRRT2 shows the locations of the five mutations in BFIE- and ICCA-affected families. (C) The structure of PRRT2 shows the locations of the five mutations. The transmembrane (TM) domains are indicated in purple. In (B) and (C), the frameshift mutations are marked in light blue, the splice-site mutations in dark blue, and the missense mutation in pink. The lines between (B) and (C) indicate which regions of the protein are coded by the three coding exons. The American Journal of Human Genetics 2012 90, 152-160DOI: (10.1016/j.ajhg.2011.12.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigrees of Families with PRRT2 Mutations Pedigrees of the 19 families affected by BFIE or ICCA show the segregation of the PRRT2 mutation within each family. Individuals with a PRRT2 mutation are indicated by m/+, and individuals tested for mutations and found to be negative are indicated by +/+. Individuals for whom the presence of a mutation was inferred on the basis of its presence in relatives are indicated by (m/+). Four additional families in which no mutation was detected are not shown. The American Journal of Human Genetics 2012 90, 152-160DOI: (10.1016/j.ajhg.2011.12.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Figure 3 Expression of Prrt2 in the Murine Brain Prrt2 is expressed in the murine brain after birth. (A–E) In situ hybridization analysis of Prrt2 expression in P21 sagittal (A and B) and P46 coronal (D and E) mouse brain sections. Robust, widespread expression was detected in the cerebral cortex (Cx) and caudate putamen (CPu) at P21 (A) and P46 (D). No signal was generated by the sense control probe (B–E). Nissl staining of flanking sections shows cell bodies (C–F). The scale bar represents 0.5 mm. The American Journal of Human Genetics 2012 90, 152-160DOI: (10.1016/j.ajhg.2011.12.003) Copyright © 2012 The American Society of Human Genetics Terms and Conditions