December 2022 PMID 36192176

Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.

Zimeng Ye, Mark F Bennett, Andrew Neal, Joshua A Laing, Martin K Hunn, Thanomporn Wittayacharoenpong, Marian Todaro, Sheila K Patel, Melanie Bahlo, Patrick Kwan, Terence J O'Brien, Ingrid E Scheffer, Samuel F Berkovic, Piero Perucca, Michael S Hildebrand

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Mentions

26
Peak: 13 in Dec 2022
across 3 sources since Oct 2022

Extended reach

155,168
potential audience

Total likes

50

Video views

84

Mentions per month

Oct 2022 – Jan 2023

Where it's discussed

  • X / Twitter23 posts
  • Facebook2 posts
  • YouTube1 videos

AI synopsis

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.

AgreementModerate agreement

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.

InterestHigh interest

The discussions demonstrate high interest by highlighting techniques like high-depth exome sequencing and the clinical implications of mosaic variants.

EngagementHigh engagement

Posts reference detailed methods, collaborations, and potential impact, indicating deep engagement with the material.

ImpactModerate impact

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 Bluesky
Neurology Journal
@GreenJournal · X

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

Dec 10, 2022 · 22 likes · 8 shares · 98,155 followers View post →
Dennis Lal
@LalDennis · X

Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr https://t.co/DKuMDsacNE

Oct 4, 2022 · 17 likes · 6 shares · 3,315 followers View post →
Alvar_Beltran
@DrBelCorbellini · X

¡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

Jan 2, 2023 · 5 likes · 1 share · 117 followers View post →
Monash STM Neuroscience
@STMneurosci · X

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

Oct 9, 2022 · 3 likes · 1,686 followers View post →
Shiva Gopal Vasishta
@ShivaVasishta · X

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

Dec 5, 2022 · 1 like · 336 followers View post →
Dr Imran Sheikh
@DrImranSheikh · X

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

Dec 11, 2022 · 24,143 followers View post →

All mentions

Epilepsia Ruber Internacional
@EpilepsiaRuber · X

RT @DrBelCorbellini: ¡Buenas, gente! ¡Feliz año! Os dejo aquí el episodio #5 de EpilepsyUpdate. Hoy hablamos de estéreo-EEG y de genética…

Jan 2, 2023 · 1 share · 2,409 followers View post →
Alvar_Beltran
@DrBelCorbellini · X

¡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

Jan 2, 2023 · 5 likes · 1 share · 117 followers View post →
Roxana Flores A. MD,PhD
@flo_rox · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 15, 2022 · 8 shares · 2,149 followers View post →
Dr Imran Sheikh
@DrImranSheikh · X

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

Dec 11, 2022 · 24,143 followers View post →
E J Novotny
@DocRusty7 · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 11, 2022 · 8 shares · 90 followers View post →
Laura Del Pozo Camina
@DelCamina · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 11, 2022 · 8 shares · 305 followers View post →
Marco Macucci
@macNeuro · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 11, 2022 · 8 shares · 849 followers View post →
Andrew Neal
@AndrewNeal_1 · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 10, 2022 · 8 shares · 212 followers View post →
leonardo lara
@leonard12448222 · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 10, 2022 · 8 shares · 106 followers View post →
yoshiyuki nishio
@nishiokov · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 10, 2022 · 8 shares · 512 followers View post →
nada que selebrar
@desselebrada · X

RT @GreenJournal: Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes: https://t.co/…

Dec 10, 2022 · 8 shares · 9,424 followers View post →
Neurology Journal
@GreenJournal · X

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

Dec 10, 2022 · 22 likes · 8 shares · 98,155 followers View post →
Dataemia
@Dataemia · X

Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes - https://t.co/Z4Me1ti0nO

Dec 6, 2022 · 967 followers View post →
BrainSights iOS App
@BrainSightsApp · X

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

Dec 5, 2022 · 312 followers View post →
Shiva Gopal Vasishta
@ShivaVasishta · X

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

Dec 5, 2022 · 1 like · 336 followers View post →
Monash STM Neuroscience
@STMneurosci · X

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

Oct 9, 2022 · 3 likes · 1,686 followers View post →
TranslationalGenomic
@TGEG_ResDx · X

RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…

Oct 5, 2022 · 6 shares · 435 followers View post →
Prof Ingrid Scheffer
@ingridscheffer · X

RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…

Oct 5, 2022 · 6 shares · 3,308 followers View post →
Majed Alzahrany
@Majalzahrany · X

RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…

Oct 4, 2022 · 6 shares · 462 followers View post →
ChrisAWalsh
@ChrisAWalsh1 · X

RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…

Oct 4, 2022 · 6 shares · 1,855 followers View post →
Taylor J. Abel
@TaylorAbelMD · X

RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…

Oct 4, 2022 · 6 shares · 2,291 followers View post →
Sebastian Ortiz, MD
@Sebasortizdelar · X

RT @LalDennis: Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr htt…

Oct 4, 2022 · 6 shares · 1,414 followers View post →
Dennis Lal
@LalDennis · X

Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes https://t.co/YdYixlMUSr https://t.co/DKuMDsacNE

Oct 4, 2022 · 17 likes · 6 shares · 3,315 followers View post →