PubMed (GeneRIF) for id: 23334

Year	Number of Results
2013	2
2017	3
2018	2
2019	2
2020	1
2021	2
2022	2
2023	1
2024	1

1

Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.

Zhang X, Han Y, Yang L, Xu N, Zhu L, Qiu S, Li Y, Xu L, Yu X. Zhang X, et al. Seizure. 2024 Jan;114:111-120. doi: 10.1016/j.seizure.2023.12.008. Epub 2023 Dec 14. Seizure. 2024. PMID: 38134649 Free article. Review.

2

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.

Cattelani C, Battistella I, Di Leva F, Fioravanti G, Benedicenti F, Stanzial F, Schwienbacher C, Fanelli F, Pramstaller PP, Hicks AA, Conti L, Corti C. Cattelani C, et al. Int J Mol Sci. 2022 Oct 28;23(21):13095. doi: 10.3390/ijms232113095. Int J Mol Sci. 2022. PMID: 36361881 Free PMC article.

3

Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.

Yang S, Yang LM, Liao HM, Fang HJ, Ning ZS, Liao CS, Wu LW. Yang S, et al. Neurol Sci. 2022 Aug;43(8):5039-5048. doi: 10.1007/s10072-022-06038-3. Epub 2022 Mar 29. Neurol Sci. 2022. PMID: 35352205 Review.

4

The SZT2 Interactome Unravels New Functions of the KICSTOR Complex.

Cattelani C, Lesiak D, Liebscher G, Singer II, Stasyk T, Wallnöfer MH, Heberle AM, Corti C, Hess MW, Pfaller K, Kwiatkowski M, Pramstaller PP, Hicks AA, Thedieck K, Müller T, Huber LA, Eca Guimaraes de Araujo M. Cattelani C, et al. Cells. 2021 Oct 9;10(10):2711. doi: 10.3390/cells10102711. Cells. 2021. PMID: 34685691 Free PMC article.

5

A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.

El Halabi T, Dirani M, Hotait M, Nasreddine W, Beydoun A. El Halabi T, et al. Epilepsia Open. 2021 Jan 7;6(1):73-78. doi: 10.1002/epi4.12451. eCollection 2021 Mar. Epilepsia Open. 2021. PMID: 33681650 Free PMC article.

6

Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.

Trivisano M, Rivera M, Terracciano A, Ciolfi A, Napolitano A, Pepi C, Calabrese C, Digilio MC, Tartaglia M, Curatolo P, Vigevano F, Specchio N. Trivisano M, et al. Epilepsy Behav. 2020 Jul;108:107097. doi: 10.1016/j.yebeh.2020.107097. Epub 2020 May 11. Epilepsy Behav. 2020. PMID: 32402703 Review.

7

Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease.

Nakamura Y, Kato K, Tsuchida N, Matsumoto N, Takahashi Y, Saitoh S. Nakamura Y, et al. PLoS One. 2019 Aug 20;14(8):e0221482. doi: 10.1371/journal.pone.0221482. eCollection 2019. PLoS One. 2019. PMID: 31430354 Free PMC article.

8

Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.

Sun X, Zhong X, Li T. Sun X, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e926. doi: 10.1002/mgg3.926. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31397114 Free PMC article. Clinical Trial.

9

Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.

Pizzino A, Whitehead M, Sabet Rasekh P, Murphy J, Helman G, Bloom M, Evans SH, Murnick JG, Conry J, Taft RJ, Simons C, Vanderver A, Adang LA. Pizzino A, et al. Am J Med Genet A. 2018 Jun;176(6):1443-1448. doi: 10.1002/ajmg.a.38717. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29696782 Free PMC article.

10

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

Tsuchida N, Nakashima M, Miyauchi A, Yoshitomi S, Kimizu T, Ganesan V, Teik KW, Ch'ng GS, Kato M, Mizuguchi T, Takata A, Miyatake S, Miyake N, Osaka H, Yamagata T, Nakajima H, Saitsu H, Matsumoto N. Tsuchida N, et al. Clin Genet. 2018 Feb;93(2):266-274. doi: 10.1111/cge.13061. Epub 2017 Sep 18. Clin Genet. 2018. PMID: 28556953

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