Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry.
Furia F et al.
Epilepsia, 2025
SCN8A self-limited infantile epilepsy: Does epilepsy resolve?
Young E et al.
Epilepsia, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy.
Ancora C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M et al.
Bmc Neurology, 2024
Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M et al.
Research Square, 2023
Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.
Lin WS
Advanced Genetics (hoboken, N.j.), 2023
Structure of human NaV1.6 channel reveals Na+ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin.
Li Y et al.
Nature Communications, 2023
Genetic Links to Episodic Movement Disorders: Current Insights.
Garg D et al.
The Application of Clinical Genetics, 2023
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM et al.
Brain : a Journal of Neurology, 2022
A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.
Keshri S et al.
Acta Bio-medica : Atenei Parmensis, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Mastrangelo M et al.
Frontiers in Neurology, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Functional analysis of three Nav1.6 mutations causing early infantile epileptic encephalopathy.
Solé L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy.
Scala M et al.
Expert Review of Neurotherapeutics, 2020
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E et al.
Epilepsia, 2019
The spectrum of intermediate SCN8A-related epilepsy.
Johannesen KM et al.
Epilepsia, 2019
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability.
Liu Y et al.
Brain : a Journal of Neurology, 2019
Novel and de novo mutations in pediatric refractory epilepsy.
Liu J et al.
Molecular Brain, 2018
Early mortality in SCN8A-related epilepsies.
Johannesen KM et al.
Epilepsy Research, 2018
Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
Tian WT et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
A relatively mild phenotype associated with mutation of SCN8A.
Bagnasco I et al.
Seizure, 2018
Early-onset epileptic encephalopathy with de novo SCN8A mutation.
Xiao Y et al.
Epilepsy Research, 2018
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
Wang J et al.
Bmc Medical Genetics, 2017
The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.
Erro R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Butler KM et al.
Epilepsy Research, 2017
Autosomal dominant SCN8A mutation with an unusually mild phenotype.
Anand G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
Recent advances in genetics of chorea.
Mencacci NE et al.
Current Opinion in Neurology, 2016
SCN8A encephalopathy: Research progress and prospects.
Meisler MH et al.
Epilepsia, 2016
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Gardella E et al.
Annals of Neurology, 2016