Nat Commun: By far the largest single-cell dataset! To find the genes that affect epilepsy, the researchers analyzed more than 110,000 neurons.

Epilepsy is a neurological disorder and the most common serious chronic brain disease characterized by spontaneous and recurrent seizures, mainly in the hippocemia or cerebral cortical region.
, more than 68 million people worldwide are affected by epilepsy, but little is known about the pathophysiology of epilepsy.
some animal studies have shown that certain neuron subtypes play a role in the production of seizures and the spread of electrical signals, but the corresponding data for human epilepsy patients are few.
To this end, researchers from the University of Copenhagen in Denmark, after conducting a monocell transcriptomic analysis of 117,221 neuron transcription groups, identified large-scale changes in the epileptic cortical transcription group distributed among a variety of neuron subshapeds, and found the exact neurons most affected by epilepsy.
results were published in Nature Communications.
In particular, in order to identify the neuron subtypes of dysfunction in the epileptic activity of the human brain, the researchers conducted a single-nuclear transcriptomic histological analysis of more than 110,000 neuron transcription groups from samples of the temporal cortical layer of patients with multiple temporal lobe epilepsy and non-epilepsy.
results found that the largest transcriptional group changes occurred in several major neuron families (L5-6_Fezf2 and L2-3_Cux2) and GABA intermediate neuron subsyspes (Sst and Pvalb), while other subsypes in the same family were less affected.
integration of epilepsy and non-epileptic data sets and the identification of disease-related neuron subsypes, the researchers observed coordinated changes in transcription groups across subsypes.
suggests that the subsypes with the greatest changes in transcription groups associated with epilepsy may belong to the same circuit.
the study also found that glutamate signaling is one of the most serious signs of epilepsy disorder, highlighting layer-by-layer transcriptional changes in multiple glutamate-subject genes and strong increases in the sub-base genes that encode AMPA-assisted.
"Our study reveals the complexity of gene expression in epilepsy, which is much greater than we previously known," said Konstantin Khodosevich, associate professor at the Center for Biotechnology Research and Innovation at the School of Health and Medicine, a stratification of glutamate-like gene expression in the cortical cortical of epilepsy patients.
is not a change in a few or hundreds of genes, but a change in the expression of thousands of genes in different neurons in epilepsy.
From thousands of expression-changing genes, we identified the genes most likely to contribute to expression changes in epilepsy, and pinpointing which neurons are affected by epilepsy means that we can identify the molecules that have the most potential to be targeted for effective treatment.
study, the first to explore how each neuron in the epilepsy region of the human brain is affected by epilepsy, is the largest single-celled data set of brain diseases published to date.
next step, the researchers are working to study how neurons and changes in their function can lead to seizures, in the hope of finding molecules that can restore normal function of epilepsy-related neurons and suppress seizures.
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