Associated Papers
The Spectrum of Movement Disorders in Children with Genetic Developmental and Epileptic Encephalopathies: A Cross-Sectional Observational Study.
Kansal B et al.
Movement Disorders Clinical Practice, 2026
Case Report of Myoclonus-Ataxia Syndrome in an Indian Patient Due to SCNA1 Gene Mutation.
Chouksey A
Movement Disorders Clinical Practice, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Cerebral venous sinus thrombosis and SCN1A, a novel association?
Prasun P et al.
Molecular Biology Reports, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
[Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
Peng B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report.
Nájera-Chávez BC et al.
Neuropediatrics, 2023
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y et al.
Brain & Development, 2023
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H et al.
Brain : a Journal of Neurology, 2023
The Promising Epigenetic Regulators for Refractory Epilepsy: An Adventurous Road Ahead.
Suvekbala V et al.
Neuromolecular Medicine, 2023
Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
Matricardi S et al.
Epilepsia, 2023
The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies.
Scheffer IE
Epilepsia, 2023
Genetic and clinical variations of developmental epileptic encephalopathies.
Kaya Özçora GD et al.
Neurological Research, 2023
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
Beyond CBD: Inhibitory effects of lesser studied phytocannabinoids on human voltage-gated sodium channels.
Milligan CJ et al.
Frontiers in Physiology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction.
Bryson A et al.
Frontiers in Neurology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Dravet syndrome: Advances in etiology, clinical presentation, and treatment.
He Z et al.
Epilepsy Research, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Zuberi SM et al.
Epilepsia, 2022
Extending the Phenotype Related to SCN1A Gene: Arthrogryposis, Movement Disorders, and Malformations of Cortical Development.
Marco-Hernández AV et al.
Journal of Child Neurology, 2022
Phenotypic and Genotypic Characteristics of SCN1A Associated Seizure Diseases.
Chen C et al.
Frontiers in Molecular Neuroscience, 2022
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.
Jaber D et al.
Journal of Medical Genetics, 2021
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.
Jiang T et al.
Frontiers in Molecular Neuroscience, 2021
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
Gorman KM et al.
Brain Communications, 2021
Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.
Marco Hernández AV et al.
Frontiers in Neurology, 2021
The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function.
Jones LB et al.
Frontiers in Pharmacology, 2021
Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.
Xu C et al.
Journal of Central Nervous System Disease, 2021
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
Antisense oligonucleotides increase Scn1a expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.
Han Z et al.
Science Translational Medicine, 2020
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Kluckova D et al.
Scientific Reports, 2020
Genotype-phenotype correlation on 45 individuals with West syndrome.
Krey I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2020
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A et al.
Human Mutation, 2020
The expanding spectrum of movement disorders in genetic epilepsies.
Papandreou A et al.
Developmental Medicine and Child Neurology, 2020
Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy.
Encinas AC et al.
Plos One, 2020
SCN1B-linked early infantile developmental and epileptic encephalopathy.
Aeby A et al.
Annals of Clinical and Translational Neurology, 2019
Predicting the impact of sodium channel mutations in human brain disease.
Noebels JL
Epilepsia, 2019