Study by Carvill et al. The authors performed targeted resequencing of 65 candidate genes in 500 patients with epileptic encephalopathies. They identified pathogenic mutations in 10% of patients with SCN1A, CDKL5, CHD2, SYNGAP1 and SCN2A as the most promising genes. Candidate genes were derived from a list of known epilepsy genes, genes derives from CNVs studies (copy number variants) and genes from earlier exome studies. Of note, mutations were not found in a list of other promising candidate genes including SLC2A1 (GLUT1), suggesting that these genes are rare and associated with specific syndromes.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany