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Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of SCN2A-Related Disorders.

Sashmita Panda¹, Diana Jazmin Ixmatlahua Ribera¹, Luis A Williams²

¹Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL USA.

Biorxiv : the Preprint Server for Biology

|June 4, 2026

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Pathogenic variants in the SCN2A gene cause epilepsy and developmental disorders. This study found that sodium channel blockers can restore normal function in human neurons with the SCN2A p.M1879T variant.

Area of Science:

Neuroscience
Genetics
Pharmacology

Background:

SCN2A gene variants cause epilepsy, autism, and developmental delays.
Pathogenic missense variants in SCN2A, particularly in human neurons, are understudied.
The p.M1879T variant is linked to early-onset epilepsy and developmental delay.

Purpose of the Study:

Investigate the functional impact of the SCN2A p.M1879T pathogenic variant in human neurons.
Analyze neuronal firing properties and action potential shape.
Evaluate the efficacy of sodium channel blockers in a human neuronal model.

Main Methods:

Used induced pluripotent stem cell (iPSC)-derived excitatory neurons.
Employed conventional and high-throughput all-optical electrophysiology.

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Applied machine learning for genotype classification.

Utilized CRISPR/Cas9 for isogenic control creation.

Main Results:

Neurons with the SCN2A p.M1879T variant exhibited increased firing and altered action potential shape.
Machine learning successfully distinguished between disease variant and control genotypes.
Sodium channel blocking drugs normalized the neuronal phenotype.

Conclusions:

The SCN2A p.M1879T variant leads to altered neuronal excitability.
High-throughput all-optical electrophysiology is effective for studying SCN2A disorders.
Sodium channel blockers show promise for treating SCN2A-related epilepsy.