De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

Ion Channel Functions in Early Brain Development

(2020) Richard S. Smith et al.   TRENDS IN NEUROSCIENCES

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations

(2019) Carlotta Spagnoli et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

SCN1A gain of function in early infantile encephalopathy

(2019) Géza Berecki et al.   ANNALS OF NEUROLOGY

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

(2019) Joseph D Symonds et al.   BRAIN

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

(2018) Katherine L. Helbig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Axonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier

(2017) Andrew D. Nelson et al.   Frontiers in Cellular Neuroscience

Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

(2016) Jérôme Maluenda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Motor neuropathy contributes to crouching in patients with Dravet syndrome

(2016) Cyril Gitiaux et al.   NEUROLOGY

Axon Initial Segment Cytoskeleton: Architecture, Development, and Role in Neuron Polarity

(2016) Steven L. Jones et al.   NEURAL PLASTICITY

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

(2014) Judith G. Hall   European Journal of Medical Genetics

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

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

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

(2013) A. Laquerriere et al.   HUMAN MOLECULAR GENETICS

Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

(2012) Jie Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) C. B. Catarino et al.   BRAIN

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Nav1.1 is predominantly expressed in nodes of Ranvier and axon initial segments

(2008) Amandine Duflocq et al.   MOLECULAR AND CELLULAR NEUROSCIENCE