Dev Med Child Neurol August 2019 PMID 30680721

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.

Svetlana Gataullina, Thierry Bienvenu, Rima Nabbout, Gilles Huberfeld, Olivier Dulac

Mentions

45
Peak: 12 in Jan 2019
across 3 sources since Jan 2019

Extended reach

110,881
potential audience

Total likes

51

Video views

581

Mentions per month

Jan 2019 – Mar 2022

Where it's discussed

  • X / Twitter39 posts
  • Facebook4 posts
  • YouTube2 videos

AI synopsis

What people are saying

Discussions demonstrate strong support and high engagement, with references to the three main mechanisms—excess NMDA, phasic GABA, and tonic GABA—highlighting their importance for diagnosis and treatment. Phrases such as 'indispensable update,' 'helps explain drug potential,' and mentions of mechanisms exemplify enthusiasm, curiosity, and confidence in the research's impact.

AgreementModerate agreement

Most discussions recognize the significance of the findings and support their implications for understanding epilepsies.

InterestHigh interest

The discussions show high interest, with many references to mechanisms and potential treatment impacts.

EngagementHigh engagement

Participants delve into mechanisms like NMDA and GABA pathways, indicating deep engagement.

ImpactHigh impact

The emphasis on advancing knowledge and treatment strategies reflects a perception of high impact.

Abstract in brief

  • * It identifies three main mechanisms involved in these epilepsies: excess NMDA transmission (NMDA-pathies), abnormal GABA transmission with reduced inhibition (phasic GABA-pathies), and tonic activation of extrasynaptic GABA receptors (tonic GABA-pathies).
  • * The findings suggest that recognizing these mechanisms can help in diagnosing and determining the most effective treatment strategies for pediatric monogenic epilepsies.

Top posts

Most liked on X and Bluesky
Ana Mingorance
@CNSdrughunter · X

Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA or excess tonic GABA. Helps explain @OvidRx and @MarinusPharma drugs potential One correction: #CDKL5 are loss of function (not gain) https://t.co/nqsYVBuG0H https://t.co/R38qs6FYSH

Jan 28, 2019 · 19 likes · 10 shares · 3,324 followers View post →
Jamir Pitton Rissardo
@theneurolander · X

@platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy @AAledo @hcmefford @MDPIOpenAccess @DravetUK @Dr_RKarda @higgelly @Sibs_uk @EssexHealthy @TedOdlaug @ASims_OT @JenHelfer @SWeckhuysen @Elegardella @IngoHelbig @JulieXXian @DEE_Pconnection @DLSneurocyclist @LabPerrier @EdoPerezP @LorrieForseth @b_scn1 https://t.co/ANMN4YqMVn https://t.co/PqrNohqYgI

Mar 18, 2022 · 14 likes · 8 shares · 23,167 followers View post →
Bernard Dan
@ProfBernardDan · X

Pediatric monogenic epilepsies: electroclinical patterns point to 3 main mechanisms: excessive excitatory #NMDA, deficient phasic #GABA and enhanced tonic GABA transmission - knowledge of the pathophysiology could optimize targeted treatment https://t.co/rILbdHRE7d #epilepsy https://t.co/47olo1Itzy

Aug 13, 2019 · 5 likes · 2 shares · 1,710 followers View post →
Mac Keith Press
@mackeithpress · X

#DMCN podcast: #Gene mutations in #pediatric #epilepsy cause #NMDA‐pathy, and phasic and tonic #GABA‐pathy https://t.co/c8YMmsaSvk

Jul 11, 2019 · 3 likes · 1 share · 2,052 followers View post →
Ped Neurology Briefs
@PedNeurBriefs · X

PubMed: Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. https://t.co/FstYf8kD1l

Jan 27, 2019 · 2 likes · 1 share · 4,042 followers View post →
Mac Keith Press
@mackeithpress · X

Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co/ztScJgPHvG

Jul 12, 2019 · 1 like · 3 shares · 2,057 followers View post →

All mentions

Bernard Dan
@ProfBernardDan · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 19, 2022 · 8 shares · 1,710 followers View post →
Esra Serdaroglu
@EsraSerdaroglu · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 19, 2022 · 8 shares · 1,365 followers View post →
Mar Alonso Hoyas
@MarMarhoyas · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 18, 2022 · 8 shares · 3,660 followers View post →
SCN1B
@b_scn1 · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 18, 2022 · 8 shares · 942 followers View post →
Warrior Flower Princess
@March202018 · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 18, 2022 · 8 shares · 159 followers View post →
Jamir Pitton Rissardo
@theneurolander · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 18, 2022 · 8 shares · 23,167 followers View post →
AGE Program - Adult Genetic Epilespy
@DrDaniAndrade · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 18, 2022 · 8 shares · 2,224 followers View post →
Fundación Síndrome de Dravet
@FundacionDravet · X

RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…

Mar 18, 2022 · 8 shares · 2,774 followers View post →
Jamir Pitton Rissardo
@theneurolander · X

@platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy @AAledo @hcmefford @MDPIOpenAccess @DravetUK @Dr_RKarda @higgelly @Sibs_uk @EssexHealthy @TedOdlaug @ASims_OT @JenHelfer @SWeckhuysen @Elegardella @IngoHelbig @JulieXXian @DEE_Pconnection @DLSneurocyclist @LabPerrier @EdoPerezP @LorrieForseth @b_scn1 https://t.co/ANMN4YqMVn https://t.co/PqrNohqYgI

Mar 18, 2022 · 14 likes · 8 shares · 23,167 followers View post →
Konrad Platzer
@platzer_k · X

Further reading on the topic recommended by Steffen for the way home from #LEGOLAS:

Mar 18, 2022 · 1 like · 1,144 followers View post →
Mac Keith Press
@mackeithpress · X

The second #free access paper for #PurpleDay for #epilepsy is: Gene mutations in paediatric epilepsies cause #NMDA‐pathy, and phasic and tonic #GABA‐pathy https://t.co/TPd7wNieSq https://t.co/OMBtYF13gt

Mar 26, 2020 · 2,057 followers View post →
EPNS
@EPNSnews · X

RT @ProfBernardDan: https://t.co/sbxHqR7Zsk @lieventweets2 https://t.co/qMNZcAYM4u

Aug 21, 2019 · 1 share · 3,056 followers View post →
Bernard Dan
@ProfBernardDan · X

https://t.co/sbxHqR7Zsk @lieventweets2 https://t.co/qMNZcAYM4u

Aug 21, 2019 · 1 share · 1,710 followers View post →
Bernard Dan
@ProfBernardDan · X

@DevPeds watch the author podcast 'Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy' https://t.co/Jx9lj4dXr7

Aug 14, 2019 · 1,711 followers View post →
Elena Becker-Barroso
@beckerbarroso · X

RT @ProfBernardDan: Três mecanismos foram compartilhados pela maioria das epilepsias monogênicas: excessiva transmissão ativação de NMDA; t…

Aug 13, 2019 · 1 share · 1,000 followers View post →
Elena Becker-Barroso
@beckerbarroso · X

RT @ProfBernardDan: La mayoría de las epilepsias monogénicas comparten 3 mecanismos: el exceso de activación de la transmisión de NMDA; tra…

Aug 13, 2019 · 1 share · 1,000 followers View post →
Elena Becker-Barroso
@beckerbarroso · X

RT @ProfBernardDan: Pediatric monogenic epilepsies: electroclinical patterns point to 3 main mechanisms: excessive excitatory #NMDA, defici…

Aug 13, 2019 · 2 shares · 1,000 followers View post →
Mac Keith Press
@mackeithpress · X

RT @ProfBernardDan: Pediatric monogenic epilepsies: electroclinical patterns point to 3 main mechanisms: excessive excitatory #NMDA, defici…

Aug 13, 2019 · 2 shares · 2,057 followers View post →
Bernard Dan
@ProfBernardDan · X

Três mecanismos foram compartilhados pela maioria das epilepsias monogênicas: excessiva transmissão ativação de NMDA; transmissão anormal de GABA com reduzida inibição fásica); ativação tônica de receptores extrasinápticos de GABA-A https://t.co/rILbdHRE7d

Aug 13, 2019 · 1 like · 1 share · 1,710 followers View post →
Bernard Dan
@ProfBernardDan · X

La mayoría de las epilepsias monogénicas comparten 3 mecanismos: el exceso de activación de la transmisión de NMDA; transmisión anormal de GABA con inhibición reducida (GABA fásica); y la activación tónica de receptores de GABA-A extrasinápticos (tónica) https://t.co/rILbdHRE7d

Aug 13, 2019 · 1 like · 1 share · 1,710 followers View post →
Bernard Dan
@ProfBernardDan · X

Pediatric monogenic epilepsies: electroclinical patterns point to 3 main mechanisms: excessive excitatory #NMDA, deficient phasic #GABA and enhanced tonic GABA transmission - knowledge of the pathophysiology could optimize targeted treatment https://t.co/rILbdHRE7d #epilepsy https://t.co/47olo1Itzy

Aug 13, 2019 · 5 likes · 2 shares · 1,710 followers View post →
sferhe
@SFERHE · X

RT @mackeithpress: Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co…

Jul 19, 2019 · 3 shares · 365 followers View post →
Sarah McIntyre
@_smcintyre · X

RT @mackeithpress: Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co…

Jul 13, 2019 · 3 shares · 497 followers View post →
Bernard Dan
@ProfBernardDan · X

RT @mackeithpress: Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co…

Jul 12, 2019 · 3 shares · 1,710 followers View post →
Mac Keith Press
@mackeithpress · X

Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co/ztScJgPHvG

Jul 12, 2019 · 1 like · 3 shares · 2,057 followers View post →
Ann-Marie Halligan
@amkhalligan · X

RT @mackeithpress: #DMCN podcast: #Gene mutations in #pediatric #epilepsy cause #NMDA‐pathy, and phasic and tonic #GABA‐pathy https://t.co/…

Jul 11, 2019 · 1 share · 317 followers View post →
Mac Keith Press
@mackeithpress · X

#DMCN podcast: #Gene mutations in #pediatric #epilepsy cause #NMDA‐pathy, and phasic and tonic #GABA‐pathy https://t.co/c8YMmsaSvk

Jul 11, 2019 · 3 likes · 1 share · 2,052 followers View post →
Gerold Baier
@GeroldBaier · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 29, 2019 · 10 shares · 564 followers View post →
Esra Serdaroglu
@EsraSerdaroglu · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 29, 2019 · 10 shares · 1,365 followers View post →
Ann-Marie Halligan
@amkhalligan · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 29, 2019 · 10 shares · 316 followers View post →
SYNGAP1 Foundation
@Syngap1Fnd · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 28, 2019 · 10 shares · 2,649 followers View post →
Sebastian Ortiz, MD
@Sebasortizdelar · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 28, 2019 · 10 shares · 1,414 followers View post →
Bernard Dan
@ProfBernardDan · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 28, 2019 · 10 shares · 1,710 followers View post →
Mar Alonso Hoyas
@MarMarhoyas · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 28, 2019 · 10 shares · 3,660 followers View post →
Fundación Síndrome de Dravet
@FundacionDravet · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 28, 2019 · 10 shares · 2,774 followers View post →
Luke Rosen
@lukebrosen · X

RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…

Jan 28, 2019 · 10 shares · 2,022 followers View post →
Ana Mingorance
@CNSdrughunter · X

Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA or excess tonic GABA. Helps explain @OvidRx and @MarinusPharma drugs potential One correction: #CDKL5 are loss of function (not gain) https://t.co/nqsYVBuG0H https://t.co/R38qs6FYSH

Jan 28, 2019 · 19 likes · 10 shares · 3,324 followers View post →
DocRose
@Rosenn18 · X

RT @PedNeurBriefs: PubMed: Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. https://t.co/FstYf8kD…

Jan 27, 2019 · 1 share · 30 followers View post →
Ped Neurology Briefs
@PedNeurBriefs · X

PubMed: Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. https://t.co/FstYf8kD1l

Jan 27, 2019 · 2 likes · 1 share · 4,042 followers View post →