Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The prescribable drugs with efficacy in experimental epilepsies (PDE3) database for drug repurposing research in epilepsy

(2018) Shayeeshan Sivapalarajah et al.   EPILEPSIA

Multi-trait analysis of genome-wide association summary statistics using MTAG

(2018) Patrick Turley et al.   NATURE GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

What do genetic studies tell us about the heritable basis of common epilepsy? Polygenic or complex epilepsy?

(2018) Bobby P.C. Koeleman   NEUROSCIENCE LETTERS

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

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

(2017) Suzanne Sniekers et al.   NATURE GENETICS

Reevaluation of SNP heritability in complex human traits

(2017) Doug Speed et al.   NATURE GENETICS

Analysis of genome-wide association data highlights candidates for drug repositioning in psychiatry

(2017) Hon-Cheong So et al.   NATURE NEUROSCIENCE

An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome

(2017) Bernard Ng et al.   NATURE NEUROSCIENCE

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

(2017) Julia Oyrer et al.   PHARMACOLOGICAL REVIEWS

Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus

(2017) Herbert Schulz et al.   Nature Communications

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets

(2017) Saskia Freytag et al.   Genome Medicine

Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development

(2017) John Snedeker et al.   PLoS One

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

(2016) Jie Zheng et al.   BIOINFORMATICS

Focal EEG features and therapeutic response in patients with juvenile absence and myoclonic epilepsy

(2016) Giorgi Japaridze et al.   CLINICAL NEUROPHYSIOLOGY

Primer Part 1-The building blocks of epilepsy genetics

(2016) Ingo Helbig et al.   EPILEPSIA

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy

(2016) Danique R.M. Vlaskamp et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Gene expression elucidates functional impact of polygenic risk for schizophrenia

(2016) Menachem Fromer et al.   NATURE NEUROSCIENCE

A comprehensive map of molecular drug targets

(2016) Rita Santos et al.   NATURE REVIEWS DRUG DISCOVERY

Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes

(2016) Minako Imamura et al.   Nature Communications

A Compendium of Chromatin Contact Maps Reveals Spatially Active Regions in the Human Genome

(2016) Anthony D. Schmitt et al.   Cell Reports

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

(2015) Po-Ru Loh et al.   NATURE GENETICS

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

(2015) Lars G Fritsche et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

Describing the genetic architecture of epilepsy through heritability analysis

(2014) Doug Speed et al.   BRAIN

Impaired cognitive function in idiopathic generalized epilepsy and unaffected family members: An epilepsy endophenotype

(2014) Fahmida A. Chowdhury et al.   EPILEPSIA

Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy

(2014) Matthias J Koepp et al.   Expert Review of Neurotherapeutics

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

(2014) Julian Schubert et al.   NATURE GENETICS

The hidden genetics of epilepsy—a clinically important new paradigm

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

Pyridoxine responsiveness in novel mutations of the PNPO gene

(2014) B. Plecko et al.   NEUROLOGY

Genetics of epilepsy: The testimony of twins in the molecular era

(2014) L. Vadlamudi et al.   NEUROLOGY

The Auxiliary Subunit KChIP2 Is an Essential Regulator of Homeostatic Excitability

(2013) Hong-Gang Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Improved Heritability Estimation from Genome-wide SNPs

(2012) Doug Speed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

(2012) et al.   EPILEPSIA

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

(2012) et al.   HUMAN MOLECULAR GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

The frontal lobe in absence epilepsy: EEG-fMRI findings

(2012) P. W. Carney et al.   NEUROLOGY

Standards for epidemiologic studies and surveillance of epilepsy

(2011) David J. Thurman et al.   EPILEPSIA

Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese

(2011) Youling Guo et al.   HUMAN MOLECULAR GENETICS

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

Expression of connexin 43 in the human epileptic and drug-resistant cerebral cortex

(2011) R. Garbelli et al.   NEUROLOGY

Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology

(2011) Elizabeth J. Rossin et al.   PLoS Genetics

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

(2010) Dalia Kasperavičiūtė et al.   BRAIN

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

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

(2009) R.W. Stottmann et al.   DEVELOPMENTAL BIOLOGY

PGA: power calculator for case-control genetic association analyses

(2008) Idan Menashe et al.   BMC GENETICS

Practical aspects of imputation-driven meta-analysis of genome-wide association studies

(2008) P. I.W. de Bakker et al.   HUMAN MOLECULAR GENETICS