GEO series

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures

GSE325228 Mus musculus (mouse) RNA-seq (gene expression) 9 samples Submitted 2026/05/14 Platform GPL19057

At a glance

RNA-seq (gene expression) · mouse · 9 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: 9 samples: 3 × Input vs 3 × IgG RIP vs 3 × Celf2 RIPGroups 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.

Summary (written by the submitters)

De novo heterozygous variants in CELF2 have recently been associated with a rare neurodevelopmental disorder, yet the mechanisms linking specific variants to distinct clinical phenotypes remain poorly understood. Here, we report a cohort of 18 individuals and provide evidence that variants causing CELF2 mislocalization, but not protein-null variants, are associated with seizures.

Read the full summary ↓

Using proband-derived induced pluripotent stem cells and transgenic mouse models, we demonstrate that CELF2 undergoes activity-dependent nucleocytoplasmic shuttling in excitatory neurons and that its cytoplasmic retention causes neuronal hyperactivity, elevated seizure susceptibility, and learning and memory deficits. Cytoplasmic CELF2 regulates mRNAs critical for synaptic function and neuronal excitability and is implicated in epileptic seizures and intellectual disability. Drug screening further identifies AKT signaling as a key regulator of CELF2 nucleocytoplasmic shuttling and a candidate target for reversing neuronal hyperactivity. Together, our findings expand the clinical and genetic spectrum of CELF2-related neurodevelopmental disorders and establish a variant-specific mechanism that links CELF2 mislocalization to neuronal hyperactivity, seizures, and cognitive impairment.

This dataset

Open GSE325228 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 GSE325228_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 PRJNA1439228 and SRA study SRP684779. Searching any of these in the dataset finder brings you back here.

NCBI GEO page ↗

Study design

3 × Input vs 3 × IgG RIP vs 3 × Celf2 RIP

Supports a between-group comparison across 9 samples.

How we read this: 3 replicated groups read from 9 sample titles; they account for 9 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

GSM9598170 Input_1 Input
GSM9598171 Input_2 Input
GSM9598172 Input_3 Input
GSM9598173 IgG RIP_1 IgG RIP
GSM9598174 IgG RIP_2 IgG RIP
GSM9598175 IgG RIP_3 IgG RIP
GSM9598176 Celf2 RIP_1 Celf2 RIP
GSM9598177 Celf2 RIP_2 Celf2 RIP
GSM9598178 Celf2 RIP_3 Celf2 RIP

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