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
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.
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Jan 2019 – Mar 2022Where it's discussed
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X / Twitter39 posts
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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.
Most discussions recognize the significance of the findings and support their implications for understanding epilepsies.
The discussions show high interest, with many references to mechanisms and potential treatment impacts.
Participants delve into mechanisms like NMDA and GABA pathways, indicating deep engagement.
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@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
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
#DMCN podcast: #Gene mutations in #pediatric #epilepsy cause #NMDA‐pathy, and phasic and tonic #GABA‐pathy https://t.co/c8YMmsaSvk
PubMed: Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. https://t.co/FstYf8kD1l
Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co/ztScJgPHvG
All mentions
Gene Mutations Cause NMDA and GABA Dysfunction in Children's Epilepsy
This study explores how gene mutations in pediatric epilepsies lead to NMDA-pathy and GABA-pathy, affecting neural inhibition and transmission. Understanding these mechanisms can improve diagnosis and treatment…
Genetic Mechanisms Underlying Pediatric Epilepsy Diagnosis and Treatment
This study explores the causes of epileptogenesis in children with monogenic epilepsies, identifying three key mechanisms: excess NMDA transmission, abnormal GABA transmission, and tonic GABA receptor activation…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
RT @theneurolander: @platzer_k @bobbykoeleman @ZornitzaS @DrDaniAndrade @Stephan_HolgerD @BaulacS @ParisBrainInst @CarvillLab @RareEpilepsy…
@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
Further reading on the topic recommended by Steffen for the way home from #LEGOLAS:
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
RT @ProfBernardDan: https://t.co/sbxHqR7Zsk @lieventweets2 https://t.co/qMNZcAYM4u
https://t.co/sbxHqR7Zsk @lieventweets2 https://t.co/qMNZcAYM4u
@DevPeds watch the author podcast 'Gene mutations in paediatric epilepsies cause NMDA‐pathy, and phasic and tonic GABA‐pathy' https://t.co/Jx9lj4dXr7
RT @ProfBernardDan: Três mecanismos foram compartilhados pela maioria das epilepsias monogênicas: excessiva transmissão ativação de NMDA; t…
RT @ProfBernardDan: La mayoría de las epilepsias monogénicas comparten 3 mecanismos: el exceso de activación de la transmisión de NMDA; tra…
RT @ProfBernardDan: Pediatric monogenic epilepsies: electroclinical patterns point to 3 main mechanisms: excessive excitatory #NMDA, defici…
RT @ProfBernardDan: Pediatric monogenic epilepsies: electroclinical patterns point to 3 main mechanisms: excessive excitatory #NMDA, defici…
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
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
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
RT @mackeithpress: Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co…
RT @mackeithpress: Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co…
RT @mackeithpress: Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co…
Indispensible update on #genetic #epilepsy involving #NMDA #GABA #neurotransmission https://t.co/TPd7wNzPJY https://t.co/ztScJgPHvG
RT @mackeithpress: #DMCN podcast: #Gene mutations in #pediatric #epilepsy cause #NMDA‐pathy, and phasic and tonic #GABA‐pathy https://t.co/…
#DMCN podcast: #Gene mutations in #pediatric #epilepsy cause #NMDA‐pathy, and phasic and tonic #GABA‐pathy https://t.co/c8YMmsaSvk
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
RT @CNSdrughunter: Really cool paper in DMCN: all genetic forms of #epilepsy cluster in 3 mechanisms: too much NMDA activ, less phasic GABA…
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
RT @PedNeurBriefs: PubMed: Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. https://t.co/FstYf8kD…
PubMed: Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. https://t.co/FstYf8kD1l
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