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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

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

Medicine & Health Published 2026 Verification Pending

Overview & Synopsis

Open access biomedical research article published in EBioMedicine.

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Indexed from repository: PubMed Central (pmc.ncbi.nlm.nih.gov)
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Document Title CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.
Author / Organization 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
Subject & Discipline EBioMedicine
Categories Medicine & Health
Publication Year 2026
License / Rights Open Access / Creative Commons
Resource Verification Listed PDF (Verification Pending)
Original Host Website PubMed Central (pmc.ncbi.nlm.nih.gov)
File Format application/pdf (Portable Document Format)
Language EN
Catalog ID DOC-14515
Original Source Link Visit Source Page on pmc.ncbi.nlm.nih.gov »