These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
144 related articles for article (PubMed ID: 38481258)
1. De novo variants of IRF2BPL result in developmental epileptic disorder. Wang Y; Ke Z; Li Y; Qiu M; Liu J; Yang Z; Wen S; Liang M; Chen S Orphanet J Rare Dis; 2024 Mar; 19(1):121. PubMed ID: 38481258 [TBL] [Abstract][Full Text] [Related]
2. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Tran Mau-Them F; Guibaud L; Duplomb L; Keren B; Lindstrom K; Marey I; Mochel F; van den Boogaard MJ; Oegema R; Nava C; Masurel A; Jouan T; Jansen FE; Au M; Chen AH; Cho M; Duffourd Y; Lozier E; Konovalov F; Sharkov A; Korostelev S; Urteaga B; Dickson P; Vera M; Martínez-Agosto JA; Begemann A; Zweier M; Schmitt-Mechelke T; Rauch A; Philippe C; van Gassen K; Nelson S; Graham JM; Friedman J; Faivre L; Lin HJ; Thauvin-Robinet C; Vitobello A Genet Med; 2019 Apr; 21(4):1008-1014. PubMed ID: 30166628 [TBL] [Abstract][Full Text] [Related]
3. IRF2BPL gene mutation: Expanding on neurologic phenotypes. Shelkowitz E; Singh JK; Larson A; Elias ER Am J Med Genet A; 2019 Nov; 179(11):2263-2271. PubMed ID: 31432588 [TBL] [Abstract][Full Text] [Related]
4. [Clinical features of epilepsy in children with IRF2BPL gene variation]. Niu Q; Yang Y; Niu XY; Chen Y; Liu WW; Zhang YH Zhonghua Er Ke Za Zhi; 2021 Jun; 59(6):506-510. PubMed ID: 34102826 [No Abstract] [Full Text] [Related]
5. Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL. Qian XH; Liu XY; Zhu ZY; Wang SG; Song XX; Chen G; Wu JY; Tang HD; Cao L Seizure; 2021 Jan; 84():47-52. PubMed ID: 33278788 [TBL] [Abstract][Full Text] [Related]
6. IRF2BPL gene variants with dystonia: one new Chinese case report. Yang F; Li H; Dai Y; Zhang R; Zhang JT BMC Neurol; 2023 Jan; 23(1):32. PubMed ID: 36670390 [TBL] [Abstract][Full Text] [Related]
8. 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 Epilepsia; 2023 Aug; 64(8):e164-e169. PubMed ID: 36810721 [TBL] [Abstract][Full Text] [Related]
9. IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA. Venkateswaran S; Michaud J; Ito Y; Geraghty M; Lewis EC; Ellezam B; Boycott KM; Dyment DA; Kernohan KD; Mov Disord; 2024 Nov; 39(11):2102-2109. PubMed ID: 39224955 [TBL] [Abstract][Full Text] [Related]
10. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation. Chen PS; Chen YF; Chiu JY; Wu MC; Tai CH; Chang YY; Lan MY; Lee NC; Lin CH Ann Clin Transl Neurol; 2024 Jun; 11(6):1557-1566. PubMed ID: 38650104 [TBL] [Abstract][Full Text] [Related]
11. Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues. Bauersachs D; Bomholtz L; Del Rey Mateos S; Kühn R; Lisowski P Front Neurosci; 2024; 18():1426177. PubMed ID: 38903604 [TBL] [Abstract][Full Text] [Related]
12. Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype? Skorvanek M; Dusek P; Rydzanicz M; Walczak A; Kosinska J; Kostrzewa G; Brzozowska M; Han V; Dosekova P; Gdovinova Z; Lehotska Z; Lisowski P; Ploski R Parkinsonism Relat Disord; 2019 May; 62():239-241. PubMed ID: 30733140 [No Abstract] [Full Text] [Related]
13. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099 [TBL] [Abstract][Full Text] [Related]
14. Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature. Pisano S; Melis M; Figorilli M; Polizzi L; Rocchi L; Giglio S; Defazio G; Muroni A Seizure; 2022 Jul; 99():12-15. PubMed ID: 35525099 [TBL] [Abstract][Full Text] [Related]
15. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants]. Yang Y; Zhang YH; Chen JY; Ma JH; Sun D; Yang XL; Zhang J; Chen Y; Wu XR Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):118-122. PubMed ID: 32102148 [No Abstract] [Full Text] [Related]
16. Novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report. Khan WJ; Maqsood H; Younus S BMJ Neurol Open; 2023; 5(2):e000459. PubMed ID: 37649702 [TBL] [Abstract][Full Text] [Related]
17. 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 Sci Adv; 2022 Jan; 8(3):eabl5613. PubMed ID: 35044823 [TBL] [Abstract][Full Text] [Related]
18. A novel IRF2BPL truncating variant is associated with endolysosomal storage. Ginevrino M; Battini R; Nuovo S; Simonati A; Micalizzi A; Contaldo I; Serpieri V; Valente EM Mol Biol Rep; 2020 Jan; 47(1):711-714. PubMed ID: 31583567 [TBL] [Abstract][Full Text] [Related]
19. 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; 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; ; ; Yamamoto S; Wangler MF; Mirzaa G; Hemelsoet D; Lee B; Nelson SF; Goldstein DB; Bellen HJ; Pena LDM Am J Hum Genet; 2018 Aug; 103(2):245-260. PubMed ID: 30057031 [TBL] [Abstract][Full Text] [Related]
20. Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature. Kristiansen K; Vernal DL; Hulgaard DR Eur Child Adolesc Psychiatry; 2024 Jul; ():. PubMed ID: 39031186 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]