Homozygous W748S mutation in the <i>POLG1</i> gene in patients with juvenile‐onset Alpers syndrome and status epilepticus

Abstract

POLG mutations should be considered in cases of teenagers and young adults with a sudden onset of intractable seizures or status epilepticus, and acute liver failure. The W748S POLG1 mutation seems to lead to tissue-specific, partial mtDNA depletion in patients with juvenile-onset Alpers syndrome. Valproic acid should be avoided in the treatment of epileptic seizures in these patients.