The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

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

(2018) Amanda S. Lindy et al.   EPILEPSIA

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

Dravet syndrome and its mimics: Beyond SCN1A

(2017) Dora Steel et al.   EPILEPSIA

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Genetic epilepsy with febrile seizures plus

(2017) Yue-Hua Zhang et al.   NEUROLOGY

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

(2017) Julia Oyrer et al.   PHARMACOLOGICAL REVIEWS

Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept

(2016) Katherine B. Howell et al.   EPILEPSIA

Primer Part 1-The building blocks of epilepsy genetics

(2016) Ingo Helbig et al.   EPILEPSIA

Precision medicine in genetic epilepsies: break of dawn?

(2016) Philipp Sebastian Reif et al.   Expert Review of Neurotherapeutics

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Precision medicine in genetic epilepsies: break of dawn?

(2016) Philipp Sebastian Reif et al.   Expert Review of Neurotherapeutics

Improving your genetic literacy in epilepsy-A new series

(2015) Nigel C. K. Tan et al.   EPILEPSIA

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

Epilepsy: new advances

(2015) Solomon L Moshé et al.   LANCET

A roadmap for precision medicine in the epilepsies

(2015)   LANCET NEUROLOGY

From focal epilepsy to Dravet syndrome – Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit

(2015) Dorota Hoffman-Zacharska et al.   Neurologia i Neurochirurgia Polska

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Familial risk of epilepsy: a population-based study

(2014) Anna L. Peljto et al.   BRAIN

The hidden genetics of epilepsy—a clinically important new paradigm

(2014) Rhys H. Thomas et al.   Nature Reviews Neurology

Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

(2013) Hadassa Goldberg-Stern et al.   JOURNAL OF CHILD NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

A New Kv1.2 Channelopathy Underlying Cerebellar Ataxia

(2010) Gang Xie et al.   JOURNAL OF BIOLOGICAL CHEMISTRY