Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Issue 5 (8th April 2013)

• Record Type: Journal Article
• Authors: Heron, Sarah E.; Ong, Yeh Sze; Yendle, Simone C.; McMahon, Jacinta M.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Dibbens, Leanne M.
• Is Part Of: Epilepsia. Volume 54:Issue 5(2013:May)
• Page Start: e86
• Page End: e89
• Publication Date: 2013-04-08
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1111/epi.12167
• Languages: English
• ISSNs: 0013-9580

Abstract

<abstract abstract-type="main" id="epi12167-abs-0001"> <title>Summary</title> <p>Heterozygous mutations in <italic>PRRT2</italic> 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 <italic>PRRT2</italic> have also been reported in two families with intellectual disability (ID) and seizures. Heterozygous mutations in the genes <italic>KCNQ2</italic> and <italic>SCN2A</italic> cause the two other autosomal dominant seizure disorders of infancy: benign familial neonatal epilepsy and benign familial neonatal‐infantile epilepsy. Mutations in <italic>KCNQ2</italic> and <italic>SCN2A</italic> also contribute to severe infantile epileptic encephalopathies (IEEs) in which seizures and intellectual disability co‐occur. We therefore hypothesized that <italic>PRRT2</italic> mutations may also underlie cases of IEE. We examined <italic>PRRT2</italic> for heterozygous, compound heterozygous or homozygous mutations to determine their frequency in causing epileptic encephalopathies (EEs). Two hundred twenty patients with EEs with onset by 2 years were phenotyped. An assay for the common <italic>PRRT2</italic> c.649‐650insC mutation and high resolution‐melt analysis for mutations in the remaining exons of <italic>PRRT2</italic> were performed. Neither the common mutation nor any other pathogenic variants in <italic>PRRT2</italic> were detected in the 220 patients. Our findings suggest that mutations in <italic>PRRT2</italic> are not a common cause of IEEs.</p> </abstract>