A single gene and a single base behind infant epilepsy
January 16, 2012 in NEWS by Suzanne Elvidge
Benign familial infantile epilepsy (BFIE) is a rare form of epilepsy that runs in families, and Australian researchers have found that a change to a single base in a single gene may be behind this disorder.
BFIE is seen in around 60 families across Australia. The seizures begin in babies at around 6 months and they grow out of it at about two years, and it doesn’t seem to have any long-term effects on intelligence, though some older children and adults carrying the gene can develop paroxysmal kinesigenic choreoathetosis (PKC), a familial movement disorder where limbs can move in unespected directions. This combination is known as infantile convulsions and choreoathetosis (ICCA) syndrome.
In 2011, a team of researchers from China linked a mutation of the gene PPRT2, on chromosome 16, with the movement disorder. The gene codes for proline-rich transmembrane protein 2, and the mutation was the additional of a single base, C. Based on this research, published in Nature, Researchers at the University of Melbourne and Florey Neurosciences Institute and molecular geneticists at the University of South Australia found the same mutation in 15 of the 23 families with BFIE. Another four families had a different mutation in PPRT2. The research is published in the American Journal of Human Genetics.
Knowing the gene could lead to the development of a screening tool for the disease, and potentially a targeted treatment for both the infantile epilepsy and the later movement disorder.
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., Gécz, J., Thomas, P., Mulley, J., Berkovic, S., Scheffer, I., & Dibbens, L. (2012). PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome The American Journal of Human Genetics, 90 (1), 152-160 DOI: 10.1016/j.ajhg.2011.12.003
Chen, W., Lin, Y., Xiong, Z., Wei, W., Ni, W., Tan, G., Guo, S., He, J., Chen, Y., Zhang, Q., Li, H., Lin, Y., Murong, S., Xu, J., Wang, N., & Wu, Z. (2011). Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Nature Genetics, 43 (12), 1252-1255 DOI: 10.1038/ng.1008
