Mutations in the PACS2 gene are responsible for neonatal-onset developmental and epileptic encephalopathy, mild facial dysmorphisms, and cerebellar dysgenesis with folia abnormalities [
- Olson H.E.
- Jean-Marçais N.
- Yang E.
- et al.
A recurrent De Novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis.
Am J Hum Genet. 2018; 102: 995-1007https://doi.org/10.1016/j.ajhg.2018.03.005
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- A recurrent De Novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis.Am J Hum Genet. 2018; 102: 995-1007https://doi.org/10.1016/j.ajhg.2018.03.005
- Expanding the clinical spectrum associated with PACS2 mutations.Clin Genet. 2019; 95: 525-531https://doi.org/10.1111/cge.13516
- A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.Seizure. 2020; 79: 53-55https://doi.org/10.1016/j.seizure.2020.05.001
- Clinical variations of epileptic syndrome associated with PACS2 variant.Brain Dev. 2021; 43: 343-347https://doi.org/10.1016/j.braindev.2020.10.006
- New case with the recurrent c.635G>A pathogenic variant in the PACS2 gene: expanding the phenotype.Neurologia. 2021; (xxxx): 2-4https://doi.org/10.1016/j.nrl.2020.11.009
- First reported case of an inherited PACS2 pathogenic variant with variable expression.Epileptic Disord. 2022; 28 (Published online February)https://doi.org/10.1684/EPD.2022.1417
- Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.Am J Med Genet A. 2022; 188: 991-995https://doi.org/10.1002/ajmg.a.62596
- Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.Am J Med Genet A. 2021; 185: 884-888https://doi.org/10.1002/ajmg.a.62020
- A rare presentation characterized by epileptic spasms in ALDH7A1, Pyridox(am)ine-5′-Phosphate Oxidase, and PLPBP deficiency.Front Genet. 2022; 13: 1-10https://doi.org/10.3389/fgene.2022.804461
- Pyridoxine-responsive KCNQ2 epileptic encephalopathy: additional cases and literature review.Mol Genet Genomic Med. 2022; 10: 1-7https://doi.org/10.1002/mgg3.2024
- The multifunctional sorting protein PACS-2 regulates SIRT1-mediated deacetylation of p53 to modulate p21-dependent cell-cycle arrest.Cell Rep. 2014; 8: 1545-1557https://doi.org/10.1016/j.celrep.2014.07.049
- Vitamin B6 activates p53 and elevates p21 gene expression in cancer cells and the mouse colon.Oncol Rep. 2014; 31: 2371-2376https://doi.org/10.3892/or.2014.3073
Published online: January 03, 2023
Accepted: January 2, 2023
Received in revised form: December 31, 2022
Received: November 9, 2022
© 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.