Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

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

(2015) Claudia Passamonti et al.   EPILEPSY & BEHAVIOR

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

(2014) Eva M. Reinthaler et al.   EPILEPSIA

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

(2014)   LANCET NEUROLOGY

Phen-Gen: combining phenotype and genotype to analyze rare disorders

(2014) Asif Javed et al.   NATURE METHODS

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

(2014) Matthew Mort et al.   GENOME BIOLOGY

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

(2013) Dalia Kasperavičiūtė et al.   BRAIN

Divergent effects of the T1174SSCN1Amutation associated with seizures and hemiplegic migraine

(2013) Sandrine Cestèle et al.   EPILEPSIA

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

Predicting the functional consequences of non-synonymous DNA sequence variants — evaluation of bioinformatics tools and development of a consensus strategy

(2013) Kimon Frousios et al.   GENOMICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

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

The SCN1A gene variants and epileptic encephalopathies

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

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

(2012) Jennifer J. Rilstone et al.   EPILEPSIA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy

(2012) Ji-wen Wang et al.   EPILEPSY RESEARCH

SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache

(2012) Patrick Frosk et al.   JOURNAL OF CHILD NEUROLOGY

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

(2011) C. B. Catarino et al.   BRAIN

The Rotterdam Study: 2012 objectives and design update

(2011) Albert Hofman et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene

(2011) Iglika Yordanova et al.   NEUROSCIENCE LETTERS

Genotype-Phenotype Correlations in a Group of 15 SCN1A-Mutated Italian Patients with GEFS+ Spectrum (Seizures plus, Classical and Borderline Severe Myoclonic Epilepsy of Infancy)

(2010) Francesco Nicita et al.   JOURNAL OF CHILD NEUROLOGY

NaV1.1 channels and epilepsy

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

Na+channelopathies and epilepsy: recent advances and new perspectives

(2010) Carla Marini et al.   Expert Review of Clinical Pharmacology

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

(2009)   CLINICAL GENETICS

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

(2009) N. Fendri-Kriaa et al.   EUROPEAN JOURNAL OF NEUROLOGY

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

(2009) S. E. Heron et al.   JOURNAL OF MEDICAL GENETICS

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

(2009) Bin Tang et al.   NEUROBIOLOGY OF DISEASE

Cryptogenic Epileptic Syndromes Related to SCN1A

(2008) Claudio Zucca et al.   ARCHIVES OF NEUROLOGY

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

How do mutant Nav1.1 sodium channels cause epilepsy?

(2008) David S. Ragsdale   BRAIN RESEARCH REVIEWS