Research
Expanded repeat RNAs drive aberrant cortical network activity in benign adult familial myoclonus epilepsy
Cell Reports Medicine · By Mika Suga, Takayuki Kondo, Keiko Imamura, Nami Nagafuku, Yuto Ishibashi, Mio Kabata, Ran Shibukawa, Yaya Taketsuna, Kayoko Tsukita, Katsuya Kobayashi, Takashi Ayaki, Takefumi Hitomi, Ikuro Suzuki, Taro Tsujimura, Takuya Yamamoto, Ryosuke Takahashi, Riki Matsumoto, Akio Ikeda & Haruhisa Inoue ·
The Brief
- Researchers established patient-derived cortical organoids that recapitulate neuronal network hyperexcitability in benign adult familial myoclonus epilepsy (BAFME).
- Transcriptomic and electrophysiological analyses revealed disease-associated neuronal alterations.
- The study also reports antisense-based work, but the available summary is cut off before its results.
Why it matters
The study links expanded repeat RNAs to abnormal cortical network activity in a human model of a myoclonus epilepsy, offering a patient-derived system for studying disease mechanisms and testing interventions.
Who’s affected
- epilepsy and neurology researchers
- researchers using patient-derived organoids and disease models
- #epilepsy
- #organoids
- #repeat expansion
- #neurology
- #electrophysiology
Suga et al. establish patient-derived cortical organoids that recapitulate neuronal network hyperexcitability in benign adult familial myoclonus epilepsy (BAFME). Transcriptomic and electrophysiological analyses reveal disease-associated neuronal alterations, while antisense…
Timeline
Study published in Cell Reports Medicine
cell.com
Expanded repeat RNAs drive aberrant cortical network activity in benign adult familial myoclonus epilepsy