Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

Early-Life Epilepsies and the Emerging Role of Genetic Testing

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

De novoloss of function mutations inKIAA2022are associated with epilepsy and neurodevelopmental delay in females

(2016) R. Webster et al.   CLINICAL GENETICS

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

(2016) J. Thevenon et al.   CLINICAL GENETICS

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

(2015) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

Lessons learned from gene identification studies in Mendelian epilepsy disorders

(2015) Katia Hardies et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

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

PathogenicEFHC1mutations are tolerated in healthy individuals dependent on reported ancestry

(2014) Ryan L. Subaran et al.   EPILEPSIA

ILAE Official Report: A practical clinical definition of epilepsy

(2014) Robert S. Fisher et al.   EPILEPSIA

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

(2014) Kyle Retterer et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis

(2014) GUO-HONG CHEN   Experimental and Therapeutic Medicine

Epi4K Phase I: Gene Discovery in Epileptic Encephalopathies by Exome Sequencing

(2014) Jennifer A. Kearney   Epilepsy Currents

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Presence of Epilepsy-Associated Variants in Large Exome Databases

(2013) Natalya S. Cherepanova et al.   JOURNAL OF NEUROGENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy

(2012) Abir Tadmouri et al.   EMBO JOURNAL

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Genetic evaluation and counseling for epilepsy

(2010) Deb K. Pal et al.   Nature Reviews Neurology

Protocadherin 19 mutations in girls with infantile-onset epilepsy

(2010) C. Marini et al.   NEUROLOGY

Variable phenotypic expression of a MECP2 mutation in a family

(2009) Kimberly Augenstein et al.   Journal of Neurodevelopmental Disorders

A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

(2008) Iori Ohmori et al.   NEUROBIOLOGY OF DISEASE