MECP2

Publications

Operto FF et al. Epilepsy and genetic in Rett syndrome: A review. 2019 May;9(5):e01250. PMID: 30929312.

Marques PT, et al. Women With Genetic Epilepsies. Neurol Genet. 2025 Feb 11;11(1):e200233. PMID: 39944415.

Pepe G, et al. Endocrine disorders in Rett syndrome: a systematic review of the literature. Front Endocrinol (Lausanne). 2024 Oct 31;15:1477227. PMID: 39544232.

Ahmad B, et al. Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms. Mutat Res Rev Mutat Res. 2025 Jul 17:796:108553. PMID: 40680381.

Gonçalez JL, et al. Molecular Mechanisms of Rett Syndrome: Emphasizing the Roles of Monoamine, Immunity, and Mitochondrial Dysfunction. Cells. 2024 Dec 17;13(24):2077. PMID: 39768168.

Liu Y, et al. Exploring the complexity of MECP2 function in Rett syndrome. Nat Rev Neurosci. 2025 Jul;26(7):379-398. PMID: 40360671.

Fu C, et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. 2020 Sep 13;4(1):e000717. PMID: 32984552.

Singh J, et al. Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review. Int J Mol Sci. 2025 Jun 3;26(11):5361. PMID: 40508170.

Ali NE, et al. Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications. Mol Biol Rep. 2025 Jul 8;52(1):687. PMID: 40627220.

Gold WA, et al. Rett syndrome. Nat Rev Dis Primers. 2024 Nov 7;10(1):84. PMID: 39511247.

Neul JL, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010 Dec;68(6):944-50. PMID: 21154482.

Sigafoos J, et al. Updated systematic-narrative review on communication intervention in Rett Syndrome: 2010-2022. Augment Altern Commun. 2023 Dec;39(4):241-255. PMID: 37526342.