Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

(2017) Kameryn M. Butler et al.   EPILEPSY RESEARCH

Voltage-gated sodium channels assemble and gate as dimers

(2017) Jérôme Clatot et al.   Nature Communications

Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

(2016) Elena Gardella et al.   ANNALS OF NEUROLOGY

SCN8Aencephalopathy: Research progress and prospects

(2016) Miriam H. Meisler et al.   EPILEPSIA

Autosomal dominant SCN8A mutation with an unusually mild phenotype

(2016) G. Anand et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder

(2016) Julie M. Jones et al.   NEUROBIOLOGY OF DISEASE

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

(2015) Niccolo E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

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

(2014) Martin Kircher et al.   NATURE GENETICS

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

(2014) Mark Estacion et al.   NEUROBIOLOGY OF DISEASE

Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria

(2013) Miryam Carecchio et al.   MOVEMENT DISORDERS

Metabolic changes in DYT11 myoclonus-dystonia

(2013) M. Carbon et al.   NEUROLOGY

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

(2013) Janelle E. O'Brien et al.   Frontiers in Genetics

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired saccadic adaptation in DYT11 dystonia

(2011) C. Hubsch et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY