Expanded repeat RNAs drive aberrant cortical network activity in benign adult familial myoclonus epilepsy.

In benign adult familial myoclonus epilepsy cortical organoids, expanded repeat RNA is linked to neuronal hyperexcitability and increased AMPA-receptor-positive synaptic puncta density.

• Why it matters: Repeat expansions in intronic regions can produce neurological disease, but the mechanisms by which they perturb cortical neuronal activity in BAFME are unclear.
• What they did: Patient-derived cortical organoids and microelectrode array recordings were analyzed with frequency decomposition and compared with patient EEG, alongside single-cell RNA sequencing and synaptic puncta quantification.
• The result: AMPA receptor antagonism and antisense oligonucleotides against expanded repeat RNA both suppress hyperexcitability, implying expanded repeat RNA contributes to aberrant cortical network activity in organoids.

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