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Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Policies

Charlene Son Rigby

3PUBLICATIONS

47CO-AUTHORS

Neurology and neuromuscular diseasesInfant and child healthGene and molecular therapy

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Publications (3)

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|Jul 14, 2026

A prospective natural history study protocol for clinical trial readiness in synaptic disorders.

|Jan 27, 2024

Early life seizures and epileptic spasms in STXBP1-related disorders.

Kim M Thalwitzer, Julie Xian, Danielle de Campo

|Jul 26, 2022

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Mallory J Owen, Sebastien Lefebvre, Christian Hansen

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