Journal article

Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies

Sarah E Heron, Yeh Sze Ong, Simone C Yendle, Jacinta M McMahon, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens

EPILEPSIA | WILEY | Published : 2013


Heterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Homozygous mutations in PRRT2 have also been reported in two families with intellectual disability (ID) and seizures. Heterozygous mutations in the genes KCNQ2 and SCN2A cause the two other autosomal dominant seizure disorders of infancy: benign familial neonatal epilepsy and benign familial neonatal-infantile epilepsy. Mutations in KCNQ2 and SCN2A also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intell..

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Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

We thank the families for their participation in this study and Bev Johns for performing DNA extractions. This work was supported by grants from the National Health and Medical Research Council of Australia (Program Grant 628952 to S. F. B., I. E. S., and L. M. D.; Practitioner Fellowship 1006110 to I. E. S; Early Career Fellowship 1016715 to S. E. H.; and Career Development Fellowship 1032603 to L. M. D.). Y.S.O is supported by a University of South Australia Pharmacy and Medical Sciences PhD Scholarship.