Modifier genes in SCN1A ‐related epilepsy syndromes

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

(2018) Iris M. de Lange et al.   EPILEPSIA

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A -related seizure phenotypes

(2018) Iris M. de Lange et al.   EPILEPSIA

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

ADGRV1 is implicated in myoclonic epilepsy

(2017) Kenneth A. Myers et al.   EPILEPSIA

Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome

(2017) Jeffrey D. Calhoun et al.   EPILEPSIA

Not all SCN1A epileptic encephalopathies are Dravet syndrome

(2017) Lynette G. Sadleir et al.   NEUROLOGY

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

(2017) Michael F. Hammer et al.   PLoS One

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

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

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

(2015) Tingwei Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

(2015) Claudia Passamonti 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

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

(2015) Heng Meng et al.   HUMAN MUTATION

Dock3 Participate in Epileptogenesis Through rac1 Pathway in Animal Models

(2015) Jie Li et al.   MOLECULAR NEUROBIOLOGY

APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease

(2015) J I Vélez et al.   MOLECULAR PSYCHIATRY

A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding

(2014) Tao Zeng et al.   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

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

(2013) Rima Nabbout et al.   Orphanet Journal of Rare Diseases

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

(2012) A. Brunklaus et al.   BRAIN

Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations

(2012) Jennifer J. Rilstone et al.   EPILEPSIA

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

Overall management of patients with Dravet syndrome

(2011) BERTEN CEULEMANS   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Analysis of a purported SHANK3 mutation in a boy with autism: Clinical impact of rare variant research in neurodevelopmental disabilities

(2010) Alexander Kolevzon et al.   BRAIN RESEARCH

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

(2010) Renzo Guerrini et al.   EPILEPSIA

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

(2009) Ingrid E. Scheffer et al.   BRAIN & DEVELOPMENT

A long-term follow-up study of Dravet syndrome up to adulthood

(2009) Mari Akiyama et al.   EPILEPSIA

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

(2009) Krista Mahoney et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

Identification of the promoter region and the 5′-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5′-untranslated exons

(2008) Yue-Sheng Long et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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