Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
Author:
Funder
Ministry of Education
Yonsei University College of Medicine
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s10048-024-00777-5.pdf
Reference49 articles.
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2. Mizuguchi M, Ohsawa M, Kashii H, Sato A (2021) Brain symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment. Int J Mol Sci 22. https://doi.org/10.3390/ijms22136677
3. Au KS, Hebert AA, Roach ES, Northrup H (1999) Complete inactivation of the TSC2 gene leads to formation of hamartomas. Am J Hum Genet 65:1790–1795. https://doi.org/10.1086/302648
4. Green AJ, Smith M, Yates JR (1994) Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 6:193–196. https://doi.org/10.1038/ng0294-193
5. Lozovaya N, Gataullina S, Tsintsadze T, Tsintsadze V, Pallesi-Pocachard E, Minlebaev M et al (2014) Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model. Nat Commun 5:4563. https://doi.org/10.1038/ncomms5563
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