Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

(2021) Sara E. Mole et al.   Orphanet Journal of Rare Diseases

Changing Times for CLN2 Disease: The Era of Enzyme Replacement Therapy

(2020) Nicola Specchio et al.   Therapeutics and Clinical Risk Management

Therapeutic landscape for Batten disease: current treatments and future prospects

(2019) Tyler B. Johnson et al.   Nature Reviews Neurology

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease

(2019) Emily Gardner et al.   HUMAN MUTATION

Study of Intraventricular Cerliponase Alfa for CLN2 Disease

(2018) Angela Schulz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Early-Life Epilepsies and the Emerging Role of Genetic Testing

(2017) Anne T. Berg et al.   JAMA Pediatrics

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

(2016) Michael Fietz et al.   MOLECULAR GENETICS AND METABOLISM

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetics of Epilepsy in Clinical Practice

(2015) Samuel F. Berkovic   Epilepsy Currents

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

(2010) Russell P. Saneto et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY