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Brain mosaicism in epilepsy: New insights! We report somatic mutations in Hypothalamic Hamartomas, rare epilepsy-causing lesions. Key findings: - Somatic variants in Shh/cilia genes - Two-hit event in TNK2 Read more: 10.1212/NXG.0000000000200180 Hope For Hypothalamic Hamartomas #epilepsy#genetics

Somatic repeat expansion field is getting more interesting!! David Pellerin⁩ ⁦National Ataxia Foundation⁩ ⁦Ataxia Global Initiative⁩ ⁦FA Research Alliance⁩ #Sca27b ⁦Bill Nye⁩ “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” academic.oup.com/brain/advance-…

Somatic noncoding mutations likely contribute to schizophrenia development science.org/doi/10.1126/sc…

Excited to share our latest work. We introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people. 1/n medrxiv.org/content/10.110…

🚨 Exciting News! 🚨 We’ve launched the First Dedicated GATOR1 Epilepsy Clinic focused on DEPDC5, NPRL2, & NPRL3-related epilepsies! 🎉 Combining precision care & cutting-edge research, we're transforming outcomes for families. All infos here: utphysicians.com/gator1-epileps…

In a couple of weeks, we will be in Rome for the workshop 'In Search of Lost Time 5'! 🧐Take a look at the programme: epi-care.eu/wp-content/upl… 🖋️Register now: iscrizioni.ptsroma.it/cmsweb/Login.a… #Rome #Workshop #EpiCARE #Epilepsy #Diseases #World #Italy #December

Integrating transcriptomics and epigenetic profiling from SEEG electrodes to further map epileptic networks!

WONOEP 2025 tackles the cool topic on "Resilient Brain"!

⚡️3 key reviews examine how single-cell genomics revolutionizes our understanding of brain function & disorders!

Great to participate in a mega study analyzing 1386 epileptogenic brain lesions, confirming major role of somatic mutations in brain malformations 🧬

Please retweet 📢: Are you skilled in coding & eager to make a meaningful impact in clinical research? Join our large, friendly, & diverse team! I’m seeking motivated postdocs with strong coding expertise in R and/or Python. Details attached! UTHealth Houston

EMBO Workshop on Developmental timing across species: From mechanisms to evolutionary insights enews.embo.org/?EventID=w25-1…

Meta-analysis of DEPDC5-related epilepsy (n=586 !!) reveals 65% penetrance. Epilepsy surgery highly effective (88% success) in drug-resistant cases. #Epilepsy #Genetics #FCD#mTOR pathway

PhD Position Institut du Cerveau - Paris Brain Institute : Unraveling the genetics of epilepsy using cutting-edge multi-modal genomics & single-cell approaches. Join us to study mTOR pathway dysregulation in neurodevelopmental disorders! mentor-program.eu, DC 6: Brain mosaicism and mTOR pathway

📢 Paper out! FCDII is more complex than expected - somatic mTOR-activating mutations affect multiple cell lineages, yet only a fraction become cytomegalic. Dysmorphic neurons show mitochondrial dysfunction. #Epilepsy #BrainMosaicism #Neurodevelpment