Ingo Helbig @IngoHelbig
Child Neurologist, epilepsy genetics researcher, blogger helbiglab.io Philadelphia, USA Joined March 2009-
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Exciting (and historic) day at #AES2023: our first co-authored poster with members of our CACNA1A Research Network. This represents the largest dataset on #CACNA1A. #CollaboratingForACure @Laina_GC @PangkongFox @IngoHelbig @BCH_PoduriLab @LalDennis @nupharm1 @lbhmana
Our work on epileptic spasms in STXBP1-related disorders is now online @EpilepsiaJourn! @IngoHelbig @JulieXXian @SarahRuggieroGC @KRSullivanGC @ddecampo @curestxbp1
Our work on epileptic spasms in STXBP1-related disorders is now online @EpilepsiaJourn! @IngoHelbig @JulieXXian @SarahRuggieroGC @KRSullivanGC @ddecampo @curestxbp1
Last day of #AES2023 . Getting ready to our last session with stars @IngoHelbig and LaceySmith.
GRIN2A – this is what you need to know in 2023 | Beyond the Ion Channel epilepsygenetics.net/2023/09/15/gri… @CureGrin
We are excited to publish our new @NatureComms paper on TEQUILA-seq: a versatile and low-cost method for targeted long-read RNA sequencing. nature.com/articles/s4146…
Really interesting new structure of the KCNT1-encoded sodium-activated K+ channel reveals Na+ binding sites on the regulatory RCK domains. Might be an interesting binding pocket for inhibitors. doi.org/10.1016/j.celr… #KCNT1 #epilepsy #ionchannels
GRIA-related disorders – a different side of glutamate receptor dysfunction | Beyond the Ion Channel epilepsygenetics.net/2023/06/02/gri… @CureGrin
Did you know that Apple owns 75% of all office buildings? Or that elephants run faster than cheetahs? This study found repeating obviously false statements just 5 times increased their perceived truth, because they seem familiar: The Illusory Truth Effect researchgate.net/publication/35…
The what, how, why, where and when of STXBP1 natural history news from the 1st European STXBP1 Summit’s ‘Milano forum’ today…
Why: STXBP1 clinical features cartographically diverge from other genetic epilepsies when ‘phenotypic neighborhoods’ are mapped; illustrating an STXBP1 ‘veduta’ of why careful and diverse selection of outcome measures are necessary to capture heterogeneity
Where: CHOP team announcing a prospective, multi-site natural history study for STXBP1 in the United States When: July 2023 @SarahRuggieroGC @JulieXXian @Prosser_Lab @IngoHelbig @curestxbp1
Families who are interested in participating in an STXBP1 natural history study at a site near them can connect with the STXBP1 Foundation for site contact details
Had a fantastic time attending the Translational research advances and challenges in neurodevelopmental disorders: A focus on autism and epilepsy” conference at the CHU Sainte-Justine Research Center in Montreal with @BarabanLab.
What do we need to consider when selecting an outcome measures for STXBP1? “Basically everything” — thank goodness we have expert PT and OTs! Much love for interdisciplinary teams @IngoHelbig @curestxbp1
STXBP1 Summit 2023 started with a GREAT first day of pre-clinical updates. So much going on! 🧠🧬 Thanks to @charleneson, @SWeckhuysen, Matthijs Verhage @FGA_lab for being great teammates! #stxbp1 #curestxbp1 #stxbp1summit #research
...I wish I was there with you! @charleneson @curestxbp1 @GannaBalagura @john_oldenhof @Prosser_Lab @JulieXXian @SarahRuggieroGC @KimThalwitzer @KRSullivanGC
The 1st #STXBP1 European Summit is starting! Fantastic to bring researchers and families from Europe and around the world to advance critical work on STXBP1. #letsdothis #urgency #collaboration @curestxbp1 @GannaBalagura @john_oldenhof @Prosser_Lab
STXBP1 – here is what you need to know in 2023 | Beyond the Ion Channel by @JulieXXian epilepsygenetics.net/2023/05/16/stx…
Dennis Lal @LalDennis
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The Notorious EEG (M... @TheNotoriousEEG
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1K Followers 124 Following I tweet new human disease-gene associations. Let me know if I miss one! (tweet #MorbidGene) Creator: @JamesFasham #Genomics #RareDisease #GeneticsExciting (and historic) day at #AES2023: our first co-authored poster with members of our CACNA1A Research Network. This represents the largest dataset on #CACNA1A. #CollaboratingForACure @Laina_GC @PangkongFox @IngoHelbig @BCH_PoduriLab @LalDennis @nupharm1 @lbhmana
Last day of #AES2023 . Getting ready to our last session with stars @IngoHelbig and LaceySmith.
We are excited to publish our new @NatureComms paper on TEQUILA-seq: a versatile and low-cost method for targeted long-read RNA sequencing. nature.com/articles/s4146…
Really interesting new structure of the KCNT1-encoded sodium-activated K+ channel reveals Na+ binding sites on the regulatory RCK domains. Might be an interesting binding pocket for inhibitors. doi.org/10.1016/j.celr… #KCNT1 #epilepsy #ionchannels
The what, how, why, where and when of STXBP1 natural history news from the 1st European STXBP1 Summit’s ‘Milano forum’ today…
Why: STXBP1 clinical features cartographically diverge from other genetic epilepsies when ‘phenotypic neighborhoods’ are mapped; illustrating an STXBP1 ‘veduta’ of why careful and diverse selection of outcome measures are necessary to capture heterogeneity
Where: CHOP team announcing a prospective, multi-site natural history study for STXBP1 in the United States When: July 2023 @SarahRuggieroGC @JulieXXian @Prosser_Lab @IngoHelbig @curestxbp1
Had a fantastic time attending the Translational research advances and challenges in neurodevelopmental disorders: A focus on autism and epilepsy” conference at the CHU Sainte-Justine Research Center in Montreal with @BarabanLab.
What do we need to consider when selecting an outcome measures for STXBP1? “Basically everything” — thank goodness we have expert PT and OTs! Much love for interdisciplinary teams @IngoHelbig @curestxbp1
So true! This applies to many other medical fields not just longevity. If we are to tackle >7000 rare diseases we need to make more efforts to find many “boring safe small molecules”, and not be seduced by extremely complex and expensive modalities that will limit patient access
Cool biology, but sometimes I feel like the aging field is making everything way too hard for unclear reasons. Just develop boring safe small molecules! No need to invent a new modality AND a new drug class at the same time....
STXBP1 Summit 2023 started with a GREAT first day of pre-clinical updates. So much going on! 🧠🧬 Thanks to @charleneson, @SWeckhuysen, Matthijs Verhage @FGA_lab for being great teammates! #stxbp1 #curestxbp1 #stxbp1summit #research
Voted! Remembering Joey and all those I care for in my voting decisions. #vote #votekids #votingishealth
The 1st #STXBP1 European Summit is starting! Fantastic to bring researchers and families from Europe and around the world to advance critical work on STXBP1. #letsdothis #urgency #collaboration @curestxbp1 @GannaBalagura @john_oldenhof @Prosser_Lab
STXBP1 – here is what you need to know in 2023 | Beyond the Ion Channel ...updated gene page, in honor of the first day of the 1st #STXBP1 European Summit epilepsygenetics.net/2023/05/16/stx…
Psyched to be in Milan for the first #STXBP1 European Summit and Research Roundtable. Let’s @curestxbp1 please. Thank you @GannaBalagura for your amazing leadership to make this happen
Awesome meet-up at @ChildrensPhila with Joe @joedonaher , Ingo @IngoHelbig , and their team discussing Science of Stuttering! The future of stuttering research is bright! Scored an early copy of Joe's latest book too - a must-read! #stuttering #research #collaboration
Serious philosophy need not take the form of a journal article or monograph, argues philosophy professor @eschwitz, as he selects five sci fi books that succeed both as novels and provocative thought experiments. buff.ly/3M52pGy …
Excited to share my first blogpost! Biorepositories are at the forefront of discovery and the need for bio banking has never been more important epilepsygenetics.net/2023/05/12/the… @IngoHelbig @Laina_GC @JulieXXian
Our new preprint on #STXBP1 is now online! Delineating clinical and developmental outcomes in STXBP1-related disorders A huge thank you to @IngoHelbig and team medrxiv.org/content/10.110… Here is a brief thread...
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