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Comparative characterization of AHC associated mutations in ATP1A3 reveals diverse neurological alterations in mice.

GSE279074 Mus musculus (mouse) RNA-seq (gene expression) 48 samples Submitted 2025/05/09 Platform GPL34290
At a glance

RNA-seq (gene expression) · mouse · 48 samples

What it is
RNA-seq (gene expression)Gene activity measured by sequencing. The summary does not mention single-cell work, so this is most likely bulk: one average per sample, the usual starting point for comparing groups.
Organism
Mus musculus (mouse)
Samples
48 samples: 12 conditions, mostly with about 4 replicates eachGroups are read from the sample names, not from the paper. Check the list below.
Data you can get
A processed table (series matrix) and supplementary files from NCBI; the raw sequencing reads from ENA. Which of these hold counts depends on the study, so check the file list.
Paper
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in miceNeurobiology of disease · 2025
Summary (written by the submitters)
Pathogenic variants the neuronal Na+/K+ ATPase transmembrane ion transporter (ATP1A3) cause a spectrum of neurological disorders including alternating hemiplegia of childhood (AHC). The most common pathogenic variants in AHC are the p.D801N (~40%) and p.E815K (~25%) variant, which lead to spontaneous death with early mortality in mice.
Read the full summary ↓
Nevertheless, the characterization and knowledge on the development of clinically relevant neurological phenotypes without the induction of premature death, is critical for the identification of pathophysiological mechanisms and ultimately, testing of therapeutic strategies in disease models. Here, we used hybrid vigor attempting to mitigate the fragility of AHC mice and then, combined behavioral, electrophysiological, biochemical, and molecular testing to comparatively analyze mice that carry the most common patient observed p.D801N and p.E815K variant in the Atp1a3 gene. Collectively, our data reveal the presence but also the differential impact of the p.D801N and p.E815K variant on disease relevant alterations such as spontaneous and stress-induced paroxysmal episodes, motor function, behavioral and neurophysiological activity, and neuroinflammation. Our alternate AHC mouse models and their phenotypic deficits open novel avenues for the investigation of disease biology and therapeutic testing for ATP1A3 research.
Published in
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice
Terrey M, Krivoshein G, Adamson SI et al. · Neurobiology of disease 2025 · PMID 40381892 · doi:10.1016/j.nbd.2025.106954
This dataset
Open GSE279074 in finder → Find more mouse RNA-seq datasets →
Download · which file do I need?

Direct links to NCBI and ENA, no account and no request form. Pick by what you want to do: take the small processed table to look, the supplementary files to re-analyse, or the original raw data to start over.

1 · Just have a look

Processed table

The series matrix: one table of values per sample as the submitters processed it. The smallest download, and it opens in Excel or R. Start here to see what the data look like.

Series matrix ↓
2 · Re-analyse it

Supplementary files

The count tables and other files the authors uploaded. Take only the samples you need, or the whole study as GSE279074_RAW.tar (it can run to tens of gigabytes).

All supplementary files ↗ Whole study · RAW.tar ↓
3 · Start from the raw reads

Raw sequencing reads

The original FASTQ files, straight from the sequencer, held at ENA. Large, and you align them yourself, so only choose this if you need to re-process the study from scratch.

Raw reads on ENA ↗

What the files usually look like: For RNA-seq the counts are usually a table among the supplementary files (look for 'counts', 'expression', 'FPKM' or 'TPM' in the file name). The series matrix of a sequencing study is sometimes nearly empty.

Also filed as BioProject PRJNA1170305 and SRA study SRP537256. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗ Paper (PMID 40381892) ↗
Study design
12 conditions, mostly with about 4 replicates each
Brainstem_D801N ×4 Brainstem_E815K ×4 Brainstem_WT ×4 Cerebellum_D801N ×4 Cerebellum_E815K ×4 Cerebellum_WT ×4 Cortex_D801N ×4 Cortex_E815K ×4 +4 more

Supports a between-group comparison across 48 samples.

How we read this: 12 replicated groups read from 48 sample titles; they account for 48 of them. These groups are guessed from the sample names, not taken from the paper, so check them against the sample list below before relying on them.

Samples in this study

+ 8 more — browse all 48 samples with per-sample file links →

Datasets on a similar topic

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