Dissen GA, Lomniczi A, Heger S, Neff TL, Ojeda SR. Hypothalamic EAP1 (enhanced at puberty 1) is required for menstrual cyclicity in nonhuman primates. Endocrinology. 2012;153:350–61.

Article  CAS  PubMed  Google Scholar 

Li C, Li P. Enhanced at puberty-1 (Eap1) expression critically regulates the onset of puberty independent of hypothalamic kiss1 expression. Cell Physiol Biochem. 2017;43:1402–12.

Article  CAS  PubMed  Google Scholar 

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, et al. IRF2BPL is associated with neurological phenotypes. Am J Hum Genet. 2018;103:245–60.

Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, et al. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genet Med. 2019;21:1008–14.

Article  CAS  PubMed  Google Scholar 

Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, et al. IRF2BPL: a new genotype for progressive myoclonus epilepsies. Epilepsia. 2023;64:e164–e69.

Article  CAS  PubMed  Google Scholar 

Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, et al. Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy. Cell Rep. 2022;41:111751.

Article  CAS  PubMed  Google Scholar 

Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, et al. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. J Med Genet. 2019;56:396–407.

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, et al. Highly accurate protein structure prediction with AlphaFold. Nature. 2021;596:583–89.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Varadi M, Anyango S, Deshpande M, Nair S, Natassia C, Yordanova G, et al. AlphaFold protein structure database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. Nucleic Acids Res. 2022;50:D439–D44.

Article  CAS  PubMed  Google Scholar 

Ginevrino M, Battini R, Nuovo S, Simonati A, Micalizzi A, Contaldo I, et al. A novel IRF2BPL truncating variant is associated with endolysosomal storage. Mol Biol Rep. 2020;47:711–14.

Article  CAS  PubMed  Google Scholar 

Antonelli F, Grieco G, Cavallieri F, Casella A, Valente EM. Adult onset familiar dystonia-plus syndrome: a novel presentation of IRF2BPL-associated neurodegeneration. Parkinsonism Relat Disord. 2022;94:22–24.

Article  CAS  PubMed  Google Scholar 

Ganos C, Zittel S, Hidding U, Funke C, Biskup S, Bhatia KP. IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures. Parkinsonism Relat Disord. 2019;68:57–9.

Article  PubMed  Google Scholar 

Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, et al. IRF2BPL as a novel causative gene for progressive myoclonus epilepsy. Epilepsia. 2023;64:e170–e76.

Article  CAS  PubMed  Google Scholar 

Horovitz DDG, de Faria Domingues de Lima MA, Pires LC, Campos Araujo AQ, Vargas FR. Neurological phenotypes of IRF2BPL gene variants: a report of four novel variants. J Cent Nerv Syst Dis. 2023;15:11795735231181467.

Article  PubMed  PubMed Central  Google Scholar 

Li J, Gao K, Yan H, Xiangwei W, Liu N, Wang T, et al. Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation. Gene. 2019;700:168–75.

Article  CAS  PubMed  Google Scholar 

Mahdiannasser M, Rashidi-Nezhad A, Badv RS, Akrami SM. Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice. Acta Neurol Belg. 2022;122:1457–68.

Article  PubMed  Google Scholar 

Pisano S, Melis M, Figorilli M, Polizzi L, Rocchi L, Giglio S, et al. Neurological phenomenology of the IRF2BPL mutation syndrome: analysis of a new case and systematic review of the literature. Seizure. 2022;99:12–5.

Article  CAS  PubMed  Google Scholar 

Prilop L, Buchert R, Woerz S, Gerloff C, Haack TB, Zittel S. IRF2BPL mutation causes nigrostriatal degeneration presenting with dystonia, spasticity and keratoconus. Parkinsonism Relat Disord. 2020;79:141–43.

Article  PubMed  Google Scholar 

Shelkowitz E, Singh JK, Larson A, Elias ER. IRF2BPL gene mutation: expanding on neurologic phenotypes. Am J Med Genet A. 2019;179:2263–71.

Article  PubMed  Google Scholar 

Skorvanek M, Dusek P, Rydzanicz M, Walczak A, Kosinska J, Kostrzewa G, et al. Neurodevelopmental disorder associated with IRF2BPL gene mutation: expanding the phenotype? Parkinsonism Relat Disord. 2019;62:239–41.

Article  PubMed  Google Scholar 

Spagnoli C, Rizzi S, Salerno GG, Frattini D, Fusco C. IRF2BPL gene variants: one new case. Am J Med Genet A. 2020;182:255–56.

Article  PubMed  Google Scholar 

van Kempen M, Kim SS, Tumescheit C, Mirdita M, Lee J, Gilchrist CLM, et al. Fast and accurate protein structure search with Foldseek. Nat Biotechnol. 2024;42:243–46.

Article  PubMed  Google Scholar 

Torene RI, Guillen Sacoto MJ, Millan F, Zhang Z, McGee S, Oetjens M, et al. Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases. Am J Hum Genet. 2024;111:70–81.

Article  CAS  PubMed  Google Scholar 

Keller MD, Pandey R, Li D, Glessner J, Tian L, Henrickson SE, et al. Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder. J Allergy Clin Immunol. 2016;138:544–50.e4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shihab HA, Gough J, Mort M, Cooper DN, Day IN, Gaunt TR. Ranking non-synonymous single nucleotide polymorphisms based on disease concepts. Hum Genom. 2014;8:11.

Article  Google Scholar 

Cheng J, Novati G, Pan J, Bycroft C, Zemgulyte A, Applebaum T, et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science. 2023;381:eadg7492.

Article  CAS  PubMed  Google Scholar 

Higashimori A, Dong Y, Zhang Y, Kang W, Nakatsu G, Ng SSM, et al. Forkhead box F2 suppresses gastric cancer through a Novel FOXF2-IRF2BPL-beta-catenin signaling axis. Cancer Res. 2018;78:1643–56.

Article  CAS  PubMed  Google Scholar 

Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, et al. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015;134:97–109.

Article  CAS  PubMed  Google Scholar