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Journal Abstract Search
159 related items for PubMed ID: 32031527
1. Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants. Nardello R, Fontana A, Mangano GD, Efthymiou S, Salpietro V, Houlden H, Mangano S. Epileptic Disord; 2020 Feb 01; 22(1):111-115. PubMed ID: 32031527 [Abstract] [Full Text] [Related]
7. Mowat-Wilson syndrome presenting with fever-associated seizures. Seo SE, Kim SH, Lee ST, Choi JR, Lee JS, Kim HD, Kang HC. Epileptic Disord; 2017 Dec 01; 19(4):481-485. PubMed ID: 29258970 [Abstract] [Full Text] [Related]
9. Neurological Phenotype of Mowat-Wilson Syndrome. Cordelli DM, Di Pisa V, Fetta A, Garavelli L, Maltoni L, Soliani L, Ricci E. Genes (Basel); 2021 Jun 27; 12(7):. PubMed ID: 34199024 [Abstract] [Full Text] [Related]
10. Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS). Moore SW, Fieggen K, Honey E, Zaahl M. J Pediatr Surg; 2016 Feb 27; 51(2):268-71. PubMed ID: 26852091 [Abstract] [Full Text] [Related]
12. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. Babkina N, Deignan JL, Lee H, Vilain E, Sankar R, Giurgea I, Mowat D, Graham JM. Eur J Med Genet; 2016 Feb 03; 59(2):70-4. PubMed ID: 26721324 [Abstract] [Full Text] [Related]
13. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. Am J Med Genet A; 2014 Oct 03; 164A(10):2557-66. PubMed ID: 25123255 [Abstract] [Full Text] [Related]
16. [Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant]. Ma J, Liu Y, Zhang K, Lyu Y, Gao M, Wang D, Gai Z, Liu Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 May 10; 37(5):539-542. PubMed ID: 32335881 [Abstract] [Full Text] [Related]