Clara Pailler-Pradeau (Lausanne)

CSMD2 associated with AR NDD & epilepsy
#MorbidGene

- Orthologue CSMD1 linked to NDD
- HEK293 - reduced membrane density
- increase sctz risk missense in UKB
- F0 KO zebrafish - decreased velocity, changed brain morphology

(no preprint)

Excited to share our latest #article! We conducted the largest NGS study to date on SDR in type 1 diabetes, identifying rare variants in genes like AFAP1L1, SLC30A9, HPS3, PELI1 and CSMD2.
🔗 iovs.arvojournals.org/article.aspx...
@folkhalsanresearch.bsky.social #FinnDiane #T1D #retinopathy #diabetes

The CSMD genes are associated with epilepsies: CSMD2 with focal epilepsy/FCD and CSMD3 with a phenotype spectrum including focal epilepsy, febrile seizures, and DEE.
doi.org/10.1111/epi....

#epilepsy #epilepsia #ILAE #CSMD2 #CSMD3 #febrileseizures #focalepilepsy #infantilespasms