Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Epilepsy is common in early childhood. In this age group it is associated with high rates of
therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number …

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-
genome sequencing (rWGS) can diagnose genetic disorders in time to change acute …

Current practice in diagnostic genetic testing of the epilepsies | Cairn.info Cairn.info, Matières
à réflexion Cairn.info, Matières à réflexion Aucune suggestion trouvée Compte personnel …

Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

Objective: Although individual neonatal epilepsy syndromes are rare, as a group they
represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of …

Importance Antiseizure medication (ASM) treatment duration for acute symptomatic neonatal
seizures is variable. A randomized clinical trial of phenobarbital compared with placebo after …

Objective: To advance the understanding of KCNQ2 encephalopathy genotype–phenotype
relationships and to begin to assess the potential of selective KCNQ channel openers as …