PubMed (cited) for id: 615476

Year	Number of Results
2009	1
2013	1
2017	1
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

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

6

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.

7

Szt2, a novel gene for seizure threshold in mice.

Frankel WN, Yang Y, Mahaffey CL, Beyer BJ, O'Brien TP. Frankel WN, et al. Genes Brain Behav. 2009 Jul;8(5):568-76. doi: 10.1111/j.1601-183X.2009.00509.x. Genes Brain Behav. 2009. PMID: 19624305 Free PMC article.

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