Author

Dietrich Haubenberger

Neurocrine Biosciences (United States)ORCID 0000-0002-6233-8168Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Alison J. CuttsiD· 1 shared Celene Grayson· 1 shared Chuck Yonan· 1 shared Constanza Luzon· 1 shared Cynthia L. Harden· 1 shared Eric JeniD· 1 shared Ernesto Aycardi· 1 shared Hillary Savoie· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alison J. CuttsORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineSeizurePeer-reviewedMar 10, 2022

Clinical Characteristics and Treatment Experience of Individuals with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE): Findings from an Online Caregiver Survey

Alison J. Cutts, Hillary Savoie, Michael F. Hammer…·Dietrich Haubenberger

This study surveys caregivers of SCN8A-DEE patients to describe clinical features and treatment challenges, finding high seizure burden, multiple comorbidities, and limited effective therapies.

13 citations

humanexperimental assay

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