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POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

& Witkiewicz, A

Change history 18 December 2024 A Correction to this paper has been published: Abbreviations ADCC: Antibody-dependent cell-mediated cytotoxicity ADCP: Antibody-dependent cellular phagocytosis ADO: Adenosine ADPRP: ADP-ribose 2'-phosphate AITL: Angioimmunoblastic T-cell lymphoma ALL: Acute lymphoblastic leukemia AML: Acute myeloblastic leukemia BCR: B cell receptor BiKEs: Bispecific Killer-cell Engagers CADPR: Cyclic adenosine diphosphate (ADP)ribose CAFs: Cancer-associated fibroblasts CDC: Complement-dependent cytotoxicity CLL: Chronic lymphocytic leukemia DLBCL: Diffuse large B-cell lymphoma FcRn: Neonatal Fc receptor hcAbs: Heavy chain antibodies HGBL: High-grade B-cell lymphoma HL: Hodgkin's lymphoma IMiDs: Immunomodulatory drugs LET: High linear energy transfer mAbs: Monoclonal antibodies MAC: Membrane attack complex MAF: Metastasis-associated fibroblasts MCL: Mantle cell lymphoma MDSC: Myeloid-derived suppressor cells MM: Multiple myeloma MRD: Minimal residual disease NAADP: Nicotinamide adenine dinucleotide phosphate NAD: Nicotinamide adenine dinucleotide NADP: Nicotinamide adenine dinucleotide phosphate NK: Natural killer NSCLC: Non-small cell lung cancer ORR: Overall response rate PET: Positron emission tomography PI: Proteasome inhibitors PRIT: Pre-targeted radioimmunotherapy PTCL: Peripheral T-cell lymphoma RIT: Classical radioimmunotherapy and a RLT: Radioligand therapy RRMM: Relapsed/refractory MM sdAbs: Single domain antibodies SIRP : Signal regulatory protein SPECT: Single photon emission computed tomography SYK: Spleen tyrosine kinase Tcons: T constitutive cells TME: Tumor microenvironment Tregs: Regulatory T cells WM: Waldenstrm's macroglobulinemia References Reinherz EL, Kung PC, Goldstein G, Levey RH, Schlossman SF

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