Phenotypic and genetic spectrum of SCN 8A ‐related disorders, treatment options, and outcomes

The spectrum of intermediate SCN 8A ‐related epilepsy

(2019) Katrine M. Johannesen et al.   EPILEPSIA

Clinical study of 19 patients with SCN 8A ‐related epilepsy: Two modes of onset regarding EEG and seizures

(2019) Julien Denis et al.   EPILEPSIA

The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy

(2018) Erin M. Baker et al.   EPILEPSIA

A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy

(2018) Talia A. Atkin et al.   EPILEPSIA

Early-onset epileptic encephalopathy with de novo SCN8A mutation

(2018) Yangyang Xiao et al.   EPILEPSY RESEARCH

Early mortality in SCN8A -related epilepsies

(2018) Katrine M. Johannesen et al.   EPILEPSY RESEARCH

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

(2018) Jacy L. Wagnon et al.   HUMAN MUTATION

A relatively mild phenotype associated with mutation of SCN8A

(2018) Irene Bagnasco et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

(2018) Stephanie Oates et al.   npj Genomic Medicine

The phenotype of SCN8A developmental and epileptic encephalopathy

(2018) Elena Gardella et al.   NEUROLOGY

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

(2018) Rosie K A Bunton-Stasyshyn et al.   BRAIN

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

(2018) Yuanyuan Liu et al.   BRAIN

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

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

Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

(2016) Elena Gardella et al.   ANNALS OF NEUROLOGY

TheSCN8Aencephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin

(2016) Bryan S. Barker et al.   EPILEPSIA

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

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

(2016) Elena Parrini et al.   HUMAN MUTATION

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Weijing Kong et al.   EPILEPSIA

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

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

(2015) Rikke S. Møller et al.   Neurotherapeutics

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

(2015) Ragna S. Boerma et al.   Neurotherapeutics

Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation

(2015) R. Singh et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

(2014) Carolien G.F. de Kovel et al.   EPILEPSY RESEARCH

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

(2014) Jacy L. Wagnon et al.   HUMAN MOLECULAR GENETICS

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

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

De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

(2013) Ulvi Vaher et al.   JOURNAL OF CHILD NEUROLOGY

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

Electroencephalographic characteristics of Dravet syndrome

(2011) Michelle Bureau et al.   EPILEPSIA