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Busy week next week!

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 rarerevolutionmagazine.com/dr-justin-west… KCNT1 Epilepsy Foundation

A KCNT1 Epilepsy Foundation mom who is working to prevent SUDEP in her child. A lead researcher/neurologist from UTHealth Houston 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

Down in Boston representing the KCNT1 Epilepsy Foundation at the World Orphan Drug Congress USA. 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 KCNT1 Dad!

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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 Juliet Knowles ...let me explain Epilepsia International League Against Epilepsy

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 Epilepsiforeningen Epilepsihospitalet, Filadelfia Torie Robinson 🇺🇦

Another amazing webinar - Oral Care for Those Who Do Not Eat by Mouth! This webinar was planned with our partners at KCNT1 Epilepsy Foundation. Learn how to provide dental care for those who have #DEEs and aren't able to eat by mouth safely. bit.ly/DEEPdental

@aaronj_syngap1 Action shot. @aaronj_syngap1 Burling awareness in a neurologist of the future while Sarah Drislane of KCNT1 Epilepsy Foundation looks on. Best. Neighbor. Ever.

We know Halloween is over but any day is a good day to show off our warriors! Happy (belated) Halloween!!!

#NewProfilePic every kid loves playing in a big pile of leaves!

New paper on #KCNT1 📢 Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity! Brilliant work by Leanne Dibbens (Prior) and team 💪 #OpenAccess #Epilepsy 💜 #Genetics 🧠🧬 KCNT1 Epilepsy Foundation mdpi.com/1981920

Blood collection kit for our biobank!

Thank you Andrew! Hope it didn’t take too many pokes! And thank you Justin West. 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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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 Foundation onlinelibrary.wiley.com/doi/10.1111/ep…

A little pampering from big-sister to make sure this KCNT1 beauty is ready for her debut as a flower-girl!

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.

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