Description:
<jats:title>Summary</jats:title><jats:p>Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies characterized by myoclonus, seizures and progressive neurological symptoms.</jats:p><jats:p>The index patient was a 6‐year old boy showing early‐onset therapy resistant PME and severe developmental delay. Genome‐wide linkage analysis identified several candidate regions. The potassium channel tetramerization domain containing 7 gene (<jats:italic>KCTD7</jats:italic>) in the 7q11.21 linkage region emerged as a suitable candidate. Sequence analysis revealed a novel homozygous missense mutation (p.R94W) in a highly conserved segment of exon 2.</jats:p><jats:p>This is the second family with PME caused by <jats:italic>KCTD7</jats:italic> mutations, hence <jats:italic>KCTD7</jats:italic> mutations might be a recurrent cause of PME.</jats:p>