Preprint
Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction
ArXiV.org
Cornell University
11/15/2024
DOI: 10.48550/arxiv.2411.10421
Abstract
SCN2A encodes the alpha subunit of the voltage-gated sodium channel Nav1.2, which is involved in action potential initiation and backpropagation in glutamatergic neurons. Mutations in the gene lead to SCN2A-related disorders, which are highly heterogeneous and manifest in a variety of diagnoses, such as self-limited familial and non-familial infantile epilepsy (SeLFNIE, previously benign familial infantile seizures or BFNIS), epileptic encephalopathies (EE), infantile spasms, ataxia, autism spectrum disorder (ASD), intellectual disability (ID), and schizophrenia. Researchers have attempted to elucidate the complexity of the SCN2A gene and Nav1.2 channel function through the use and development of non-human mammalian models. These models have been invaluable to uncovering the molecular underpinnings of why changes in SCN2A lead to such a heterogenous group of disorders. This review aims to evaluate and compare the published rodent models to consolidate findings, identify limitations, and highlight future research directions
Details
- Title: Subtitle
- Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction
- Creators
- Katelin E. J ScottMaria F Hermosillo ArrietaAislinn J Williams
- Resource Type
- Preprint
- Publication Details
- ArXiV.org
- DOI
- 10.48550/arxiv.2411.10421
- ISSN
- 2331-8422
- Publisher
- Cornell University; Ithaca, New York
- Language
- English
- Date posted
- 11/15/2024
- Academic Unit
- Psychiatry; Iowa Neuroscience Institute
- Record Identifier
- 9984749559502771
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