A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

(2017) Zornitza Stark et al.   GENETICS IN MEDICINE

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy

(2017) Maie Walsh et al.   Annals of Clinical and Translational Neurology

Whole exome sequencing in patients with white matter abnormalities

(2016) Adeline Vanderver et al.   ANNALS OF NEUROLOGY

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

(2016) Glen R. Monroe et al.   GENETICS IN MEDICINE

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

Double Inversion Recovery Magnetic Resonance Imaging in Identifying Focal Cortical Dysplasia

(2016) Lily C. Wong-Kisiel et al.   PEDIATRIC NEUROLOGY

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

Costs of epilepsy and cost-driving factors in children, adolescents, and their caregivers in Germany

(2015) Janna Riechmann et al.   EPILEPSIA

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics

(2015) Jo M. Wilmshurst et al.   EPILEPSIA

How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium

(2015) Elaine C. Wirrell et al.   EPILEPSIA

Chromosomal microarray in unexplained severe early onset epilepsy – A single centre cohort

(2015) Nicholas M. Allen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Clinical Characteristics and Treatment Response in Children with West Syndrome in a Developing Country

(2015) Sheffali Gulati et al.   JOURNAL OF CHILD NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Cpipe: a shared variant detection pipeline designed for diagnostic settings

(2015) Simon P. Sadedin et al.   Genome Medicine

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

(2014) D.A. Dyment et al.   CLINICAL GENETICS

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied and treated

(2014) Matthew Might et al.   GENETICS IN MEDICINE

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Diagnostic delays in children with early onset epilepsy: Impact, reasons, and opportunities to improve care

(2013) Anne T. Berg et al.   EPILEPSIA

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Evidence-based path to newborn screening for duchenne muscular dystrophy

(2012) Jerry R. Mendell et al.   ANNALS OF NEUROLOGY

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Trends in Resource Utilization by Children with Neurological Impairment in the United States Inpatient Health Care System: A Repeat Cross-Sectional Study

(2012) Jay G. Berry et al.   PLOS MEDICINE

Metabolic and monogenic causes of seizures in neonates and young infants

(2011) Johan L.K. Van Hove et al.   MOLECULAR GENETICS AND METABOLISM

Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service

(2010) D.G. Evans et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA