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Maksim Parfyonov
@MParfyonov
I've seen two patients in my training with ring chromosome 20 associated epilepsy, which inspired my recent talk at #CleClinicNeuro Peds Epilepsy GR, so I decided to distill it to a #neurogenetics #epilepsy #tweetorial 🤓 🧬
1/🧵
what is a 💍 chromosome? Rather than having a full complement of rod-shaped chromosomes like this:

2/ 🧵
affected individuals have at least one chromosome with circular formation, due to fusion of distal chromosome regions:

3/ 🧵 Kalane et al. Int J Epil 2017; 04(01): 087-089
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#epilepsy #tweetorials #CleClinicNeuro #neurogenetics #tweetorial

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