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Version and Review History

Preprint Version 2

Reviewed by Hermann Mucke

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Is Open Access

MAPK8IP3-related neurodevelopmental disorder: case report and therapeutic rationale for a truncating variant

Preprint

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Author(s): Camerron Crowder ¹ ^, ² ^, , Aleksandra Foksinska ² , Lindsay Jenkins ² , Madeline Eckenrode ² ^, ³ , Andrew Crouse ² , Matthew Might ² ^, ⁴

Publication date (Electronic preprint): 28 January 2025

Journal: DrugRxiv

Publisher: REPO4EU

Keywords: rare disease, precision medicine, neurodevelopment, MAPK8IP3, JIP3

Content

Author and article information

Journal

Title: DrugRxiv

Publisher: REPO4EU

Publication date (Electronic preprint): 28 January 2025

Affiliations

[1 ] Department of Neurobiology, University of Alabama at Birmingham ( https://ror.org/008s83205)

[2 ] Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham ( https://ror.org/008s83205)

[3 ] Department of General Internal Medicine, University of Alabama at Birmingham ( https://ror.org/008s83205)

[4 ] General Internal Medicine, University of Alabama at Birmingham ( https://ror.org/008s83205)

Author notes

[* ]Email: camerron@ 123456uab.edu .

Author information

Camerron Crowder https://orcid.org/0000-0002-3517-0697

Article

DOI: 10.58647/DRUGARXIV.PR000020.v1

SO-VID: 61b481e9-c65f-455d-960c-a1b589ccf662

License:

This work has been published open access under Creative Commons Attribution License CC BY 4.0 , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Conditions, terms of use and publishing policy can be found at www.scienceopen.com .

History

Date received : 28 January 2025

Categories

Data availability: Data sharing not applicable to this article as no datasets were generated or analysed during the current study.

ScienceOpen disciplines: Medicine,Pediatrics,Neurology,Molecular biology,Neurosciences,Genetics

Keywords: rare disease, precision medicine, neurodevelopment, MAPK8IP3, JIP3

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