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CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.

Garloff V, Grimmel M, Maroofian R, Efthymiou S, Stengel S, Bello D, Tille C, Ghait M, Ohlenschläger O, Dieckmann A, de Vries H, Waginger M, Nadeef S, Barkhordari E, Kaiyrzhanov R, Bühler S, Pjeci I, Beck-Wödl S, Alvi JR, Sultan T, Chassevent A, Smith-Hicks C, Mishina I, Rodríguez-Palmero A, Wassmer E, Vogt J, Meudt CM, Jamra RA, Abbaszadegan MR, Ajami N, Azizimalamiri R, Galehdari H, Chamanrou N, Zamani M, Shariati G, Nourbakhsh P, Ali FB, Fatima A, Hashmi SN, Iqbal Z, Kaleem S, Toft M, Afzal E, Maqbool S, Rahman F, Salpietro V, Grisval M, Racine C, Januel L, Cheillan D, Acquaviva-Bourdain C, Al Alam C, Alfadhel M, Umair M, Oehl-Jaschkowitz B, Haider S, Jain V, Narang B, Amer F, Elkhateeb N, Alvarez C, Pérez-Palma E, Ríos-Pohl L, Møller RS, Baruah D, Lingappa L, Farooq A, Zaki MS, Svyatova G, Murtazalieva A, Burabayeva A, Salayev K, Guliyeva U, Kahrizi K, Najmabadi H, Revah-Politi A, Mulhern MS, Sands TT, Mustafa HM, Rao HA, Oprea G, Rad A, Miryounesi M, Mardi A, Gowda VK, Srinivasan VM, Alanazi RM, Abumansour IS, Alhaddad B, Bakur K, Bauer M, Alkuraya FS, Huppke P, Houlden H, Haack TB, Rubio I, Husain RA.

EBioMedicine · 2026-10-14

DOI: 10.1016/j.ebiom.2026.106506PMID: 42874293

A bibliographic record traceable to Europe PMC.
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