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You are interested in 3 days of ⛷️🏂 + 🤖 📈 📊 + #epilepsy 🧠 research?

Join us in two weeks at the second #epilepsy #AI conference in Park City, UT, USA

Strong program! Join last minute in person or virtually:

aiepilepsy-neuro.com

Latest work from us: Christian Bosselmann & team. Natural language processing & analysis of ~10,000 patient encounters of genetic and non-genetic types of #epilepsy doi.org/10.1093/brainc…

Focal #EEG and semiology features are common in GTCS in patients with IGE. How to distinguish them from FBTCS in Focal Epilepsy? We have validated a simple, clinical decision flowchart. Read about it in this open access paper: doi.org/10.1111/epi.17…
#epilepsy Epilepsia

Today is International #SCN8A Awareness Day 💜

It has been an exciting year. We launced the SCN8A- Natural History Study, hosted the 2nd International #SCN2A & SCN8A gathering, and linked SCN8A to paroxymal movement disorders 🌍

#StrongerTogether 💜
International SCN8A Alliance Elena Gardella

Join us for an enlightening GR session this Friday featuring esteemed Prof Renée Shellhaas, MD, MS, with insights into neonatal epileptology and professional growth!

Join link (password below):
cmrccf.webex.com/cmrccf/j.php?M…
 
Webinar number:
2430 813 2713
 
‼️Webinar password:
epilepsy

Registration is open for INES 2024!
ILAE course: 14th International Summer School for Neuropathology and Epilepsy Surgery
September 19-22, 2024
ilae.org/congresses
PLease contact: [email protected]

Our work on epileptic spasms in STXBP1-related disorders is now online Epilepsia!

Ingo Helbig Julie Xian Sarah McKeown Ruggiero Katie Rose Sullivan Danielle de Campo stxbp1

💡 Abstract and bursary submission for #DICE2024 is now OPEN ‼️

🗓️ Abstract Submission Deadline - March 15th 2024, 23:59 CET

Registration will open next week ‼️

We hope to see you all in Denmark 🇩🇰 in May!

#Epilepsy 🧠 #Genetics 🧬 #PrecisionMedicine

Christmas is a wonderful time to reflect and be grateful. Thankful for a successful year along some truly extraordinary friends, colleagues, and collaborators: Dennis Lal, Imad Najm, Alina Ivaniuk 🇺🇦 and many others. Exciting new results already lined up for 2024. Happy Holidays!

Even non-channel epilepsy genes (e.g., CDKL5) modulate neuron excitability by way of ion channels. Channelopathies rule!
doi.org/10.1038/s41467… #epilepsy #ionchannels

Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease nature.com/articles/s4158…

Our UTHealth Houston genetic variant interpretation workshop for #neurologists (+Lal-team holiday social) in the books. I want to thank our team [email protected] Alina Ivaniuk 🇺🇦 Costin Leu Emily Huth Eduardo Pérez Palma Émile Moura Christian Bosselmann & non-twitter members for their effort

Day 1 of the workshop, the morning session covers basics of neurogenetics

From the largest epilepsy brain tissue 🧬 project in the world. Congratulations

A structural atlas of druggable sites on Nav #ionchannels T&F Channels ➡️ rb.gy/9jmbq3

Congratulations Alina Ivaniuk 🇺🇦 on your poster presentation on #epilepsysurgery in 🧬tic and nongenetic surgically treated epilepsies. American Epilepsy Society
#AES2023 Imad Najm Christian Bosselmann Elia

1/n I'm thrilled to share *Deep generative modelling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders* medrxiv.org/content/10.110… from a wonderful collaboration between the Marks Lab and Dias and Frazer group, with Rose Orenbuch as lead!🧵:

Come visit my poster at #AES2023 - let's talk about somatic variation in lesional focal epilepsy! 🤗🧬 12/4/23 12:00 pm, No. 3.361

First report of  #KCNA3 DEE. Contrasting #KCNA2 , LoF causes milder phenotypes, e.g. solely hemiplegic migraine. Severe cases (GoF) have #Epilepsy , National Autistic Society, #developmentaldelay . Potential #PrecisionMedicine treatment for GoF with #fluoxetine KCNA2 Epilepsy doi.org/10.1002/ana.26…

RT Konrad Platzer: #SCN8A is now also a #MorbidGene for chronic progressive or episodic ataxia Rikke S. Møller Christian Bosselmann eBioMedicine – The Lancet Discovery Science 👏 👇 twitter.com/FiladelfiaGene…