PubMed (OMIM) for id: 23334

Year	Number of Results
1997	1
2009	1
2013	2
2017	4
2018	3
2019	2
2020	1
2024	0

1

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.

2

Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly.

Iodice A, Spagnoli C, Frattini D, Salerno GG, Rizzi S, Fusco C. Iodice A, et al. Seizure. 2019 Jul;69:296-297. doi: 10.1016/j.seizure.2019.05.015. Epub 2019 May 19. Seizure. 2019. PMID: 31146092 Free article. No abstract available.

3

Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.

Imaizumi T, Kumakura A, Yamamoto-Shimojima K, Ondo Y, Yamamoto T. Imaizumi T, et al. Intractable Rare Dis Res. 2018 Nov;7(4):245-250. doi: 10.5582/irdr.2018.01117. Intractable Rare Dis Res. 2018. PMID: 30560016 Free PMC article.

4

SZT2 mutation in a boy with intellectual disability, seizures and autistic features.

Kariminejad A, Yazdan H, Rahimian E, Kalhor Z, Fattahi Z, Zonooz MF, Najmabadi H, Ashrafi M. Kariminejad A, et al. Eur J Med Genet. 2019 Sep;62(9):103556. doi: 10.1016/j.ejmg.2018.10.008. Epub 2018 Oct 22. Eur J Med Genet. 2019. PMID: 30359774

5

SAMTOR is an S-adenosylmethionine sensor for the mTORC1 pathway.

Gu X, Orozco JM, Saxton RA, Condon KJ, Liu GY, Krawczyk PA, Scaria SM, Harper JW, Gygi SP, Sabatini DM. Gu X, et al. Science. 2017 Nov 10;358(6364):813-818. doi: 10.1126/science.aao3265. Science. 2017. PMID: 29123071 Free PMC article.

6

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

7

SZT2 dictates GATOR control of mTORC1 signalling.

Peng M, Yin N, Li MO. Peng M, et al. Nature. 2017 Mar 16;543(7645):433-437. doi: 10.1038/nature21378. Epub 2017 Feb 15. Nature. 2017. PMID: 28199315 Free PMC article.

8

KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.

Wolfson RL, Chantranupong L, Wyant GA, Gu X, Orozco JM, Shen K, Condon KJ, Petri S, Kedir J, Scaria SM, Abu-Remaileh M, Frankel WN, Sabatini DM. Wolfson RL, et al. Nature. 2017 Mar 16;543(7645):438-442. doi: 10.1038/nature21423. Epub 2017 Feb 15. Nature. 2017. PMID: 28199306 Free PMC article.

9

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.

Falcone M, Yariz KO, Ross DB, Foster J 2nd, Menendez I, Tekin M. Falcone M, et al. PLoS One. 2013 Dec 6;8(12):e82810. doi: 10.1371/journal.pone.0082810. eCollection 2013. PLoS One. 2013. PMID: 24324832 Free PMC article.

10

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.

Basel-Vanagaite L, Hershkovitz T, Heyman E, Raspall-Chaure M, Kakar N, Smirin-Yosef P, Vila-Pueyo M, Kornreich L, Thiele H, Bode H, Lagovsky I, Dahary D, Haviv A, Hubshman MW, Pasmanik-Chor M, Nürnberg P, Gothelf D, Kubisch C, Shohat M, Macaya A, Borck G. Basel-Vanagaite L, et al. Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8. Am J Hum Genet. 2013. PMID: 23932106 Free PMC article.

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