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IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.
Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. Five individuals who carry IRF2BPL nonsense variants resulting in a premature stop codon display severe neurodevelopmental regression, …
Here we describe seven individuals who carry damaging heterozygous variants in IRF2BPL and are affected with neurological symptoms. F …
IRF2BPL-Related Disorder.
Vanagunas T, Ulm Seiwert E, Larsh TR, Marcogliese PC, Pena LDM. Vanagunas T, et al. 2024 Nov 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Nov 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 39571061 Free Books & Documents. Review.
In some individuals the course of the disorder is progressive or debilitating. DIAGNOSIS/TESTING: The diagnosis of IRF2BPL-related disorder is established in a proband with characteristic clinical findings and a heterozygous pathogenic variant in IRF2BPL identified …
In some individuals the course of the disorder is progressive or debilitating. DIAGNOSIS/TESTING: The diagnosis of IRF2BPL-related di …
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Gardella E, et al. Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8. Epilepsia. 2023. PMID: 37114479
We describe a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three novel subjects and review the features of the 31 subjects with IRF2BPL-related disorders previously reported. ...Our data show that PME can be an additional phenotype …
We describe a novel IRF2BPL phenotype consistent with progressive myoclonus epilepsy (PME) in three novel subjects and review the fea …
IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P. Costa C, et al. Epilepsia. 2023 Aug;64(8):e164-e169. doi: 10.1111/epi.17557. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36810721
Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two, unrelated patients presenting with PME. IRF2BPL belongs to the transcriptional regulators family and it is expressed in multiple human tissues, including t …
Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two, unrelated patients pre …
Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.
Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, Glažar P, Zhang X, Biswas P, Caporale JR, Rajewsky N, Bickle M, Wein N, Bellen HJ, Likhite S, Marcogliese PC, Meyer KC. Sinha Ray S, et al. Cell Rep. 2022 Dec 6;41(10):111751. doi: 10.1016/j.celrep.2022.111751. Cell Rep. 2022. PMID: 36476864 Free article.
While full-length IRF2BPL primarily localizes to the nucleus, truncated patient variants sequester the wild-type protein to the cytoplasm and cause aggregation. ...Importantly, the in vitro findings are recapitulated in vivo, where co-expression of full-length and truncate …
While full-length IRF2BPL primarily localizes to the nucleus, truncated patient variants sequester the wild-type protein to the cytop …
IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.
Heide S, Davoine CS, Cunha P, Scherer-Gagou C, Keren B, Stevanin G, Charles P, Heron D, Brice A, Durr A. Heide S, et al. Neurol Genet. 2023 Oct 19;9(6):e200096. doi: 10.1212/NXG.0000000000200096. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235039 Free PMC article.
In parallel, inherited IRF2BPL variants have been reported in cohorts of patients with late-onset progressive dystonic and ataxic syndrome with few information about the neurodevelopment of these patients. ...Two different disorders may be clinically diagnosed in the same …
In parallel, inherited IRF2BPL variants have been reported in cohorts of patients with late-onset progressive dystonic and ataxic syn …
IRF2BPL gene mutation: Expanding on neurologic phenotypes.
Shelkowitz E, Singh JK, Larson A, Elias ER. Shelkowitz E, et al. Am J Med Genet A. 2019 Nov;179(11):2263-2271. doi: 10.1002/ajmg.a.61328. Epub 2019 Aug 20. Am J Med Genet A. 2019. PMID: 31432588 Review.
This article reports an additional case of a patient with a pathogenic IRF2BPL variant and offers a comprehensive review of the published cases of individuals with IRF2BPL variants, in order to help expand the phenotype. ...While the molecular underpinnings of the r …
This article reports an additional case of a patient with a pathogenic IRF2BPL variant and offers a comprehensive review of the publi …
Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.
Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, Lu D, Fazal F, Ravenscroft TA, Chung H, Kanca O, Wan J, Douine ED, Network UD, Pena LDM, Yamamoto S, Nelson SF, Might M, Meyer KC, Yeo NC, Bellen HJ. Marcogliese PC, et al. Sci Adv. 2022 Jan 21;8(3):eabl5613. doi: 10.1126/sciadv.abl5613. Epub 2022 Jan 19. Sci Adv. 2022. PMID: 35044823 Free PMC article.
De novo truncations in Interferon Regulatory Factor 2 Binding Protein Like (IRF2BPL) lead to severe childhood-onset neurodegenerative disorders. To determine how loss of IRF2BPL causes neural dysfunction, we examined its function in Drosophila and zebrafish. ...WNT1 …
De novo truncations in Interferon Regulatory Factor 2 Binding Protein Like (IRF2BPL) lead to severe childhood-onset neurodegenerative …
Novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report.
Khan WJ, Maqsood H, Younus S. Khan WJ, et al. BMJ Neurol Open. 2023 Aug 28;5(2):e000459. doi: 10.1136/bmjno-2023-000459. eCollection 2023. BMJ Neurol Open. 2023. PMID: 37649702 Free PMC article.
BACKGROUND: IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the human body, including the brain. ...CONCLUSION: Our case highlights the importance of early recognition of the neurological symptoms associated …
BACKGROUND: IRF2BPL (interferon regulatory factor 2-binding protein-like) gene is an intronless gene present ubiquitously in the huma …
IRF2BPL gene variants with dystonia: one new Chinese case report.
Yang F, Li H, Dai Y, Zhang R, Zhang JT. Yang F, et al. BMC Neurol. 2023 Jan 21;23(1):32. doi: 10.1186/s12883-023-03077-x. BMC Neurol. 2023. PMID: 36670390 Free PMC article.
CASE PRESENTATION: We report a Chinese boy who presented with dystonia, dysarthria, and normal development due to nonsense IRF2BPL mutation, with intact imaging and EEG findings but without developmental delays or seizures. Whole-exome sequencing revealed a novel nonsense …
CASE PRESENTATION: We report a Chinese boy who presented with dystonia, dysarthria, and normal development due to nonsense IRF2BPL mu …
60 results