Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

Gene × Environment Determinants of Stress- and Anxiety-Related Disorders

(2016) Sumeet Sharma et al.   Annual Review of Psychology

Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations

(2016) Nicole A. Hawkins et al.   EPILEPSY RESEARCH

Hypothalamic–pituitary–adrenal axis response to acute psychosocial stress: Effects of biological sex and circulating sex hormones

(2016) Mary Ann C. Stephens et al.   PSYCHONEUROENDOCRINOLOGY

The stress regulator FKBP51 drives chronic pain by modulating spinal glucocorticoid signaling

(2016) Maria Maiarù et al.   Science Translational Medicine

Adjusting for Heritable Covariates Can Bias Effect Estimates in Genome-Wide Association Studies

(2015) Hugues Aschard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Estimating the mutation load in human genomes

(2015) Brenna M. Henn et al.   NATURE REVIEWS GENETICS

Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome

(2015) Moran Rubinstein et al.   NEUROBIOLOGY OF DISEASE

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

(2013) Eija Gaily et al.   EPILEPSIA

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome

(2013) A. R. Miller et al.   GENES BRAIN AND BEHAVIOR

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

Polymorphisms in the glucocorticoid receptor co-chaperone FKBP5 predict persistent musculoskeletal pain after traumatic stress exposure

(2013) Andrey V. Bortsov et al.   PAIN

Scn8a voltage-gated sodium channel mutation alters seizure and anxiety responses to acute stress

(2013) Nikki T. Sawyer et al.   PSYCHONEUROENDOCRINOLOGY

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stress, seizures, and hypothalamic–pituitary–adrenal axis targets for the treatment of epilepsy

(2012) Jamie Maguire et al.   EPILEPSY & BEHAVIOR

Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq

(2012) N. A. Hawkins et al.   GENES BRAIN AND BEHAVIOR

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

(2012) Iori Ohmori et al.   NEUROBIOLOGY OF DISEASE

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

Pure haploinsufficiency for Dravet syndrome NaV1.1 (SCN1A) sodium channel truncating mutations

(2011) Giulia Bechi et al.   EPILEPSIA

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

(2010) Renzo Guerrini et al.   EPILEPSIA

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

(2010) Nicole A. Hawkins et al.   NEUROBIOLOGY OF DISEASE

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene

(2010) A. Suls et al.   NEUROLOGY

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

Identifying modifier genes of monogenic disease: strategies and difficulties

(2008) Emmanuelle Génin et al.   HUMAN GENETICS