Associated Papers
Reply: Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.
Brunklaus A
Brain : a Journal of Neurology, 2025
Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.
Luo S et al.
Brain : a Journal of Neurology, 2025
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
38279250 (PubMed )
Supplement: ijms-25-01248-s001.zip › Tab_supp_S1.xlsx › Foglio1
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
Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways.
Nagy ZF et al.
Biomedicines, 2023
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 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
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
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations.
Spagnoli C et al.
Seizure, 2019
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