<i><scp>ADCK</scp>3</i> mutations with epilepsy, stroke‐like episodes and ataxia: a <scp>POLG</scp> mimic?

Abstract

ADCK3 mutations can cause a combination of progressive ataxia and acute epileptic encephalopathy with stroke-like episodes. The clinical, radiological and electrophysiological features of this disorder mimic the phenotype of polymerase gamma (POLG) related encephalopathy and it is therefore suggested that ADCK3 mutations be considered in the differential diagnosis of mitochondrial encephalopathy with POLG-like features.