Top Tweets for #prrt2
Motor-planning cerebello-cerebral network alterations in PRRT2-related paroxysmal kinesigenic dyskinesia
#motorplanning #cerebellocerebral #network #PRRT2 #PKD
https://t.co/sfAfiGwUbu
It was great presenting part of my PhD work on #PRRT2 earlier this week!
Thank you to the @ILAEBRITISH for giving me the chance!
#ILAE2024
@fayemcloud9
@EpilepsyInst
@ResearchNetERI
What is the gene you must be aware of when working up paroxysmal disorders? PRRT2 mutations @JenGoldmanMD reviews, and guess what, check out the spectrum of disorders which it has been associated. Do you know its function? WOW! Humbling! #PRRT2 #paroxysmaldyskinesia
Delighted to share some of our preliminary data on #PRRT2 at #ILAE2023.
It was great seeing so many #epilepsy experts and hearing about their research and experiences!
@fayemcloud9
@ILAEBRITISH
@EpilepsyInst
💬 Does much change after you receive a diagnosis for a rare condition?
Mari received her #PRRT2 duplication #diagnosis after 26 years of waiting. In her blog she writes about the time being #undiagnosed and what changed afterwards.
https://t.co/tT85mvxi6T
#RareDisease
The EEG IN #PRRT2-SeLIE is normal… except in the peri-ictal period. New paper from Nikky Fearn, @_emma_m_l, Laura Moylan and me describing a cool (electro)clinical observation https://t.co/aP1CkFgms5
Early Onset Paroxysmal Dyskinesia in PRRT2-Related Disorders.
A case report on an infant experiencing a concomitant onset of paroxysmal dyskinesia and epileptic seizures.
#PRRT2 #dyskinesia #seizure
https://t.co/z3NIgMGsP1
Mari lives with a #PRRT2 duplication, which took 26 years to #diagnosis.
In a blog she writes about the time she was #undiagnosed and the sad reality that not much improved even after a name was given for her condition 👉 https://t.co/hiDOHqujnD
#UndiagnosedChildrensDay2023
Heterozygous #PRRT2 var. lead to self-limiting infantile #epilepsy, #movement_disorders and hemiplegic #migraine.
Our own @AlbertoCossu1 together w. @FiladelfiaGene1, @Elegardella and others expanded the phenotypical spectrum to include electrical #StatusEpilepticus during sleep
I'm to share with everybody our latest paper! The first fruit of a hopefully long collaboration 😎 Thanks to @Elegardella @NeuroSingWolf @FiladelfiaGene1
#Neurotwitter #Epilepsygenetics https://t.co/AMYIEhDCd9
@AlbertoCossu1 @Elegardella @NeuroSingWolf @FiladelfiaGene1 Congratulations 👏👏 great work expanding this spectrum of #PRRT2.
#PRRT2-related disorders include self-limited infantile #epilepsy (SeLIE), paroxysmal kinesigenic dyskinesia (PKD), PKD with infantile convulsions, and hemiplegic migraine.
New phenotype‼️ We identified two children with SeLIE that evolved to #ESES 👇👇
@AlbertoCossu1 👏👏
I'm to share with everybody our latest paper! The first fruit of a hopefully long collaboration 😎 Thanks to @Elegardella @NeuroSingWolf @FiladelfiaGene1
#Neurotwitter #Epilepsygenetics https://t.co/AMYIEhDCd9
@FiladelfiaGene1 @Kassabian_B @SHINESyndrome @ZeynepTumer_DK @caterina_ancora @Sebasortizdelar @sskkmm2022 @sopio_gverd @Vivian_WY_Liao @NazaninAzarine1 @Katrine92658231 @FrancescaFuria_ Don't forget #PRRT2 in collaboration with our UK colleagues @RMaroofian 😀
PRRT2‐positive self‐limited infantile epilepsy: initial seizure characteristics and response to sodium channel blockers https://t.co/KhUqwOEN4o
#epilepsy #openaccess #PRRT2 #infantileepilepsy #sodiumchannelblocker #genetic @IlaeWeb @WileyNeuro @yesILAE @EpilepsiaOpen
This work adds to the #SNAREopathies. @curestxbp1 @stxbp1 #STX1B, #PRRT2, #SNAP25, #VAMP2, #SYT1, etc.
If you are into #SNAREopathies, follow the work of @IngoHelbig @JulieXXian @SWeckhuysen @HannahStamberg1 @SynapticHolly @SteffenSyrbe @KimThalwitzer @FiladelfiaGene1 & others.
⭐️ ⭐️ ⭐️ if any cases of paroxysmal movement disorders please contact me or Susan Harvey! We want to capture all cases in Ireland #paediatrics #paediatricneurology #prrt2 #episodicataxia
Susan Harvey presenting a fascinating & engaging talk on paroxysmal movement disorders @TempleStreetHos @CHIatCrumlin #IPA2022
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