PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah Heron, Bronwyn Grinton, Sara Kivity, Zaid Afawi, Sameer Zuberi, James Hughes, Claire Pridmore, Bree Hodgson, Xenia Iona, Lynette Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos Korczyn, Alison Gardner, Mark Corbett, Jozef Gecz, Paul ThomasJC Mulley, Samuel Berkovic, Ingrid Scheffer, Leanne Dibbens

    Research output: Contribution to journalArticle

    174 Citations (Scopus)

    Abstract

    Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy in terms of both age of expression (infancy versus later childhood) and anatomical substrate (cortex versus basal ganglia).

    Original languageEnglish
    Pages (from-to)152-160
    Number of pages9
    JournalAmerican Journal of Human Genetics
    Volume90
    Issue number1
    DOIs
    Publication statusPublished - 2012

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  • Cite this

    Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Hughes, J., Pridmore, C., Hodgson, B., Iona, X., Sadleir, L., Pelekanos, J., Herlenius, E., Goldberg-Stern, H., Bassan, H., Haan, E., Korczyn, A., Gardner, A., Corbett, M., Gecz, J., ... Dibbens, L. (2012). PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome. American Journal of Human Genetics, 90(1), 152-160. https://doi.org/10.1016/j.ajhg.2011.12.003