Literature DB >> 31594069

[WAC gene pathogenic variation cause DeSanto-Shinawi syndrome with electrical status epilepticus during sleep].

Y J Zhang1, P L Yao1, Y F Zhou1, T Qiu1, J Wang1, X H Wang1, S Z Zhou1, B B Wu2, Y Wang1.   

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Year:  2019        PMID： 31594069     DOI： 10.3760/cma.j.issn.0578-1310.2019.10.015

Source DB:  PubMed          Journal:  Zhonghua Er Ke Za Zhi        ISSN： 0578-1310


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  3 in total

Review 1.  Electrical Status Epilepticus During Slow-wave Sleep (ESES): Current Perspectives.

Authors:  Pinar Arican; Pinar Gencpinar; Nihal Olgac Dundar; Hasan Tekgul
Journal:  J Pediatr Neurosci       Date:  2021-07-02

2.  Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.

Authors:  Cristina Toledo-Gotor; Cristina García-Muro; Alberto García-Oguiza; Mª Luisa Poch-Olivé; Mª Yolanda Ruiz-Del Prado; Elena Domínguez-Garrido
Journal:  Mol Genet Genomic Med       Date:  2022-03-10       Impact factor: 2.473

3.  A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).

Authors:  Emanuela Leonardi; Mariagrazia Bellini; Maria C Aspromonte; Roberta Polli; Anna Mercante; Claudia Ciaccio; Elisa Granocchio; Elisa Bettella; Ilaria Donati; Elisa Cainelli; Stefania Boni; Stefano Sartori; Chiara Pantaleoni; Clementina Boniver; Alessandra Murgia
Journal:  Genes (Basel)       Date:  2020-03-24       Impact factor: 4.096
  3 in total

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