Article
The spectrum of epilepsy caused by POLG mutations.
Acta neurologica Belgica - 1 Mar 2016
Janssen Wouter, Quaegebeur Annelies, Van Goethem Gert, Ann Löfgren, Smets Katrien, Vandenberghe Rik, Van Paesschen Wim
Abstract excerpt
Mutations in POLG are increasingly recognized as a cause of refractory occipital lobe epilepsy (OLE) and status epilepticus (SE). Our aim was to describe the epilepsy syndrome in seven patients with POLG mutations. We retrospectively reviewed the medical records of seven patients with POLG mutations and epilepsy. Mutation analysis was performed by direct sequencing of the coding exons of the POLG gene. Disease...
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