KCNT1 Epilepsy Foundation
@KCNT1_Epilepsy
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We are a parent-lead patient advocacy group working to transform the future for children suffering from KCNT1 Epilepsy.
Joined February 2020
Bravery is an undervalued trait in science. But it is brave to think about the hardest problems. Courageous to stake a career on solving them knowing that you probably will not. It is the stuff of heros to try to rip answers from the ether for the betterment of mankind.
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When our founder’s daughter was diagnosed in 2018, they were given a paper that said there were six known patients worldwide and that life expectancy was a couple of years at best. One of the inspirations for the Foundation was to ensure no parent ever received that paper again.
@KCNT1_Epilepsy opened its patient registry 7 mos ago and is close to 100 patients! This community sees the value of sharing data so researchers can find a cure for this #rare debilitating form of #epilepsy in children. #kcnt1epilepsy #rarediseaseday
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A little pampering from big-sister to make sure this KCNT1 beauty is ready for her debut as a flower-girl!
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Functional e-phys evaluation of presumed disease causing #KCNT1 variants. Authors found a strong tendency for pathogenic variants to exert gain-of-function effects on channel properties. #epilepsy #genetics #neurotwitter
@KCNT1_Epilepsy
onlinelibrary.wiley.com
Objective Gain of function variants in the sodium-activated potassium channel KCNT1 have been associated with pediatric epilepsy disorders. Here, we systematically examine a spectrum of KCNT1...
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New paper on #KCNT1 📢 Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity! Brilliant work by @leanne_dibbens and team 💪 #OpenAccess #Epilepsy 💜 #Genetics 🧠🧬 @KCNT1_Epilepsy
https://t.co/fvIVuoAX49
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Thank you Andrew! Hope it didn’t take too many pokes! And thank you @DrJustinWest. Our biobank is just one of the many dreams that you have worked tirelessly to make reality. You are a force of nature. Our community is so fortunate to have you fighting for it.
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We know Halloween is over but any day is a good day to show off our warriors! Happy (belated) Halloween!!!
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@aaronj_syngap1 Action shot. @aaronj_syngap1 Burling awareness in a neurologist of the future while @drislanesarah1 of @KCNT1_Epilepsy looks on. Best. Neighbor. Ever.
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Another amazing webinar - Oral Care for Those Who Do Not Eat by Mouth! This webinar was planned with our partners at @KCNT1_Epilepsy. Learn how to provide dental care for those who have #DEEs and aren't able to eat by mouth safely.
deepconnections.net
Dental Health Webinars and Videos Tools And Resources Developmental Disabilities and Oral Health - National Institute of Dental and Craniofacial Research
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Preparing tonight's talk for the 🇩🇰 #Epilepsy Association 😀 Looking forward to talking about genetic testing 🧬🧠, #PrecisionMedicine 💊, and the invaluable work of our amazing rare epilepsy organizations 💜 #StrongerTogether #genetics
@epilepsi @Filadelfia_DK @TorieRobinson10
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...this somewhat mysterious title needs context. ...here is our third blog post on our recent review on epilepsy precision medicine by @julietkknowles ...let me explain @EpilepsiaJourn @IlaeWeb
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Down in Boston representing the @KCNT1_Epilepsy at the @OrphanConf. We are honored to present a poster on our cutting edge patient registry developed with our partners @LunaDNA. Our poster was co-authored by our very own @kcnt1dad!
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RARE Revolution had the pleasure of speaking with Justin West, an Orange County surgeon, husband, and father of three. Justin’s youngest, his five-year old son Andrew, was diagnosed with #KCNT1-related #epilepsy
https://t.co/HDGgPH7tZR
@KCNT1_Epilepsy
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A @KCNT1_Epilepsy mom who is working to prevent SUDEP in her child. A lead researcher/neurologist from @UTHealthHouston will discuss what we know about SUDEP in the rare epilepsy community, what caregivers of children with rare epilepsies can do to prevent SUDEP. 2/2
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