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FamilieSCN2A Foundation | Researchclopedia

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FamilieSCN2A Foundation

Springfield, Massachusettsnonprofit

13

Works

966

Citations

10

h-index

Top Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Autism Spectrum Disorder Research

Top Researchers

Anne T. Berg Northwestern University

368 works34,857 citationsh-index: 88

Recent Research

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

Tobias Brunger,Ilona Krey,et al.

20260 citations

Neurogenetic and Muscular Disorders Research

Epilepsy research and treatment

Neurological disorders and treatments

Genetic Associations and Epidemiology

Congenital Heart Disease Studies

Traumatic Brain Injury Research

Bioinformatics and Genomic Networks

Genetic Neurodegenerative Diseases

Sleep and Wakefulness Research

Brad A. Bryan Epilepsy Foundation

96 works2,818 citationsh-index: 29

39 works1,708 citationsh-index: 20

Leah F. Schust FamilieSCN2A Foundation

4 works370 citationsh-index: 3

Angie L. Auldridge FamilieSCN2A Foundation

1 works333 citationsh-index: 1

Leah Schust Myers

14 works180 citationsh-index: 8

Gross Motor Function in Individuals With SCN2A-Related Disorders

Anne T. Berg,Aaron J. Kaat,et al.

20252 citations

Enhancing Rare Disease Education through AI-Driven Podcast Generation

Eduardo Pérez‐Palma,Ilene Miller,et al.

20253 citations

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy

Günes Sevinc,Kari Knox,et al.

20242 citations

<i>SCN2A</i>-Related Disorders

Megan Abbott,Kevin J. Bender,et al.

20240 citations

Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder

Natasha N. Ludwig,Mary Wojnaroski,et al.

20247 citations