Ontology highlight
ABSTRACT:
SUBMITTER: Zutt R
PROVIDER: S-EPMC5719837 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Epilepsia open 20160825 3-4
A 42-year-old male was admitted for refractory status epilepticus. At the age of 25, he had been diagnosed with juvenile myoclonic epilepsy. He had a stable clinical course for over a decade until a recent deterioration of behavior and epilepsy. After exclusion of acquired disorders, diagnostic work-up included application of next-generation sequencing (NGS), with a gene panel targeting progressive myoclonic epilepsies. This resulted in the diagnosis Lafora disease resulting from compound hetero ...[more]