Precision medicine is the treatment of patients with therapy targeted to their specific
pathophysiology. This lofty ideal currently has limited application in clinical practice …

Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …

Objective We evaluated seizure outcome in a large cohort of familial neonatal seizures
(FNS), and examined phenotypic overlap with different molecular lesions. Methods Detailed …

Background We intended to evaluate diagnostic utility of a targeted gene sequencing by
using next generation sequencing (NGS) panel in patients with intractable early-onset …

Objective Although most seizures in neonates are due to acute brain injury, some represent
the first sign of neonatal onset genetic epilepsies. Delay in recognition and lack of expert …

Epileptic encephalopathies represent a group of devastating epileptic disorders that occur
early in life and are often characterized by pharmaco-resistant epilepsy, persistent severe …

In contrast to epilepsy in adolescents and adults, neonatal seizures and early onset epilepsy
poses unique challenges with significant repercussion for treatment choices. Most …

Purpose We aimed to gain insight into frequencies of genetic variants in genes implicated in
neurodevelopmental disorder with epilepsy (NDD+ E) by investigating large cohorts of …

Objective We performed targeted gene-panel sequencing for children with developmental
and epileptic encephalopathy (DEE) and evaluated the clinical implications of genotype …

Genetics should now be part of everyday clinical epilepsy practice. Good data exist to
provide empiric risks based on epilepsy syndrome diagnosis. Investigation of the molecular …