• Publications
  • Influence
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
TLDR
This study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.
Pitfalls in genetic testing: the story of missed SCN1A mutations
TLDR
This work focused on missed SCN1A mutations, the major gene implicated in epilepsy, and wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients.