Epilepsy is a disease characterized by abnormal brain activity and a predisposition to
generate epileptic seizures, leading to neurobiological, cognitive, psychological, social, and …

Over the last decade, advances in genetics, neuroimaging and EEG have enabled the
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …

Epilepsies of early childhood are frequently resistant to therapy and often associated with
cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene …

Background With the increasing number of genomic sequencing studies, hundreds of genes
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …

Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …

Importance It is currently unknown how often and in which ways a genetic diagnosis given to
a patient with epilepsy is associated with clinical management and outcomes. Objective To …

Pathogenic variants in SCN 8A have originally been described in patients with
developmental and epileptic encephalopathy (DEE). However, recent studies have shown …

Background and Objectives Although genetic testing among children with epilepsy has
demonstrated clinical utility and become a part of routine testing, studies in adults are …

Objective Genetic testing has become a routine part of the diagnostic workup in children with
early onset epilepsies. In the present study, we sought to investigate a cohort of adult …

Objective Molecular genetic etiologies in epilepsy have become better understood in recent
years, creating important opportunities for precision medicine. Building on these advances …