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

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

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

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 …

Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked
seizure with a propensity for others, affects 0.64% of the population and can lead to …

Background Many patients remain without a diagnosis despite extensive medical
evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a …

Current practice in diagnostic genetic testing of the epilepsies | Cairn.info Cairn.info, Matières
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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 …

Purpose This study aimed to estimate the cost-effectiveness of exome sequencing (ES) and
genome sequencing (GS) for children. Methods We modeled costs, diagnoses, and quality …

Purpose and scope The aim of this position statement is to provide recommendations for
clinicians regarding the use of genetic and metabolic investigations for patients with …