Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/N7a4QTHJH6 #NeuroTwitter #Neurology https://t.co/FMrumG7gnh
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.
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Oct 2022 – Jan 2023Where it's discussed
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X / Twitter23 posts
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Facebook2 posts
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YouTube1 videos
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What people are saying
The discussions show strong support and deep interest, exemplified by mentions of advanced genetic techniques and collaboration efforts, with phrases like 'proof of concept' and highlighting the potential for future clinical applications. The tone emphasizes significance and excitement about how these findings could shape epilepsy diagnostics and treatment.
Most discussions acknowledge the significance of the study, with many emphasizing its potential to advance understanding of epilepsy genetics and its relevance to the field.
The discussions demonstrate high interest by highlighting techniques like high-depth exome sequencing and the clinical implications of mosaic variants.
Posts reference detailed methods, collaborations, and potential impact, indicating deep engagement with the material.
The study is seen as impactful, suggesting it could influence future research, diagnostics, and treatment approaches for epilepsy.
Abstract in brief
- The study identifies a mosaic pathogenic variant in brain tissue from a patient with multifocal epilepsy, revealing its anatomical distribution across different brain regions.
- The researchers used advanced techniques, including high-depth exome sequencing and droplet digital PCR, to analyze DNA from tissue collected via stereoelectroencephalography (SEEG) electrodes.
- A significant finding was that the variant's concentration correlated with the patient's most epileptogenic area, providing insights into the role of mosaic variants in focal epilepsy and potential implications for presurgical evaluations.
Top posts
Most liked on X and BlueskySomatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr https://t.co/DKuMDsacNE
¡Buenas, gente! ¡Feliz año! Os dejo aquí el episodio #5 de EpilepsyUpdate. Hoy hablamos de estéreo-EEG y de genética somática, entre otros. https://t.co/QmRLY7ShjQ https://t.co/vJt1WiWIDu
Proof of concept for mosaic gradients using trace tissue from SEEG electrodes - collaboration between @MonashCCS @Alfred_Research @UniMelbMDHS @Austin_Health #Genetics #seizure #neuroscience @AndrewNeal_1 @patrick_kwan @brien_terence https://t.co/gtAY6CRrz1
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/5gaUjqr4fM #neurology #doctors #medtwitter #medical #medicinenews #healthcare
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes #NeuroTwitter #Neurology: https://t.co/6O1Fba6ccA https://t.co/yUP5r7KpbD
All mentions
Advances in Detecting Mosaic Variants in Focal Epilepsy using Stereo-EEG
RT @DrBelCorbellini: ¡Buenas, gente! ¡Feliz año! Os dejo aquí el episodio #5 de EpilepsyUpdate. Hoy hablamos de estéreo-EEG y de genética…
¡Buenas, gente! ¡Feliz año! Os dejo aquí el episodio #5 de EpilepsyUpdate. Hoy hablamos de estéreo-EEG y de genética somática, entre otros. https://t.co/QmRLY7ShjQ https://t.co/vJt1WiWIDu
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes #NeuroTwitter #Neurology: https://t.co/6O1Fba6ccA https://t.co/yUP5r7KpbD
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/N7a4QTHJH6 #NeuroTwitter #Neurology https://t.co/FMrumG7gnh
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes - https://t.co/Z4Me1ti0nO
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes - AAN Neurology via BrainSights for iOS https://t.co/JgUAGTtIzF
Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/5gaUjqr4fM #neurology #doctors #medtwitter #medical #medicinenews #healthcare
Proof of concept for mosaic gradients using trace tissue from SEEG electrodes - collaboration between @MonashCCS @Alfred_Research @UniMelbMDHS @Austin_Health #Genetics #seizure #neuroscience @AndrewNeal_1 @patrick_kwan @brien_terence https://t.co/gtAY6CRrz1
RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…
RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…
RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…
RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…
RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…
RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…
Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr https://t.co/DKuMDsacNE