FamilieSCN2A Foundation

Recent papers from FamilieSCN2A Foundation

1. Quantitative deep motor phenotyping of 102 people with SCN2A, KCNQ2, CSNK2A1, CACNA1A or SCN8A-related disorders2026
2. American Epilepsy Society Clinical Practice Guideline: Infantile EpilepsyEpiliepsy currents/Epilepsy currents · 2026
3. The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregiversJournal of Child Psychology and Psychiatry · 2025
4. Gross Motor Function in Individuals With SCN2A-Related DisordersNeurology Clinical Practice · 2025
5. Enhancing Rare Disease Education through AI-Driven Podcast Generation2025
6. Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disordersBrain · 2024
7. A patient organization perspective: charting the course to a cure for SCN2A-related disordersTherapeutic Advances in Rare Disease · 2024
8. Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythmsNeurobiology of Disease · 2022
9. Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathiesDevelopmental Medicine & Child Neurology · 2022
10. SCN2A ‐Developmental and Epileptic Encephalopathies: Challenges to trial‐readiness for non‐seizure outcomesEpilepsia · 2020
11. Progress in Understanding and Treating SCN2A-Mediated DisordersTrends in Neurosciences · 2018