Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Model systems for studying cellular mechanisms of SCN1A-related epilepsy

(2016) Soleil S. Schutte et al.   JOURNAL OF NEUROPHYSIOLOGY

CHD2variants are a risk factor for photosensitivity in epilepsy

(2015) Elizabeth C. Galizia et al.   BRAIN

De novoKCNT1mutations in early-onset epileptic encephalopathy

(2015) Chihiro Ohba et al.   EPILEPSIA

Mutations inKCNT1cause a spectrum of focal epilepsies

(2015) Rikke S. Møller et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic–atonic seizures

(2015) Marina Trivisano et al.   EPILEPSY & BEHAVIOR

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

Review of Commercially Available Epilepsy Genetic Panels

(2015) Chelsea Chambers et al.   Journal of Genetic Counseling

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

(2015) Paolo Curatolo et al.   LANCET NEUROLOGY

Pathway-driven discovery of epilepsy genes

(2015) Jeffrey Noebels   NATURE NEUROSCIENCE

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

(2015) R. H. Thomas et al.   NEUROLOGY

Genetics of Pediatric Epilepsy

(2015) Abeer J. Hani et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes

(2015) Mario Mastrangelo   PEDIATRIC NEUROLOGY

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

(2015) Toshiyuki Yamamoto et al.   PLoS One

CHD2 is Required for Embryonic Neurogenesis in the Developing Cerebral Cortex

(2015) Tianjin Shen et al.   STEM CELLS

Advancing epilepsy genetics in the genomic era

(2015) Candace T. Myers et al.   Genome Medicine

WONOEP appraisal: New genetic approaches to study epilepsy

(2014) Elsa Rossignol et al.   EPILEPSIA

The variable phenotypes of KCNQ-related epilepsy

(2014) Nicholas M. Allen et al.   EPILEPSIA

CHD2 mutations in Lennox–Gastaut syndrome

(2014) Caroline Lund et al.   EPILEPSY & BEHAVIOR

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

(2014) Erika Della Mina et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The genetic landscape of infantile spasms

(2014) Jacques L. Michaud et al.   HUMAN MOLECULAR GENETICS

Epilepsy Genetics Revolutionizes Clinical Practice

(2014) Ingrid Scheffer   NEUROPEDIATRICS

Next Generation Sequencing and the Future of Genetic Diagnosis

(2014) Katja Lohmann et al.   Neurotherapeutics

EpilepsyGene: a genetic resource for genes and mutations related to epilepsy

(2014) Xia Ran et al.   NUCLEIC ACIDS RESEARCH

A Novel Nonsense Mutation in SCN9A in a Moroccan Child With Congenital Insensitivity to Pain

(2014) Maria Mansouri et al.   PEDIATRIC NEUROLOGY

Diagnostic Yield of Clinical Next-Generation Sequencing Panels for Epilepsy

(2014) Jason Wang et al.   JAMA Neurology

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

Role of the sodium channelSCN9Ain genetic epilepsy with febrile seizures plus and Dravet syndrome

(2013) John C. Mulley et al.   EPILEPSIA

The SCN1A gene variants and epileptic encephalopathies

(2013) Rashmi Parihar et al.   JOURNAL OF HUMAN GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

(2012) P. Striano et al.   NEUROLOGY

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

(2012) R. van Vliet et al.   NEUROLOGY

Role of CYP2C9 polymorphism in phenytoin-related metabolic abnormalities and subclinical atherosclerosis in young adult epileptic patients

(2012) Kanitpong Phabphal et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect

(2011) Y. G. Weber et al.   NEUROLOGY

Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor

(2011) Elena García-Martín et al.   Pharmacogenetics and Genomics

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

(2010) W. G. Leen et al.   BRAIN

Mutation Detection in Candidate Genes for Benign Familial Infantile Seizures on a Novel Locus

(2010) Nan Li et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Cardiac Channel Molecular Autopsy for Sudden Unexpected Death in Epilepsy

(2010) Jonathan N. Johnson et al.   JOURNAL OF CHILD NEUROLOGY

Mutations in GABAAreceptor subunits associated with genetic epilepsies

(2010) Robert L. Macdonald et al.   JOURNAL OF PHYSIOLOGY-LONDON

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1

(2009) Arvid Suls et al.   ANNALS OF NEUROLOGY

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment and seizures

(2009) Stephen R Williams et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes

(2009) S. Russo et al.   NEUROGENETICS