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A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy

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References

  1. Symonds JD, Joss S, Metcalfe KA, Somarathi S, Cruden J, Devlin AM, Donaldson A, DiDonato N, Fitzpatrick D, Kaiser FJ, Lampe AK, Lees MM, McLellan A, Montgomery T, Mundada V, Nairn L, Sarkar A, Schallner J, Pozojevic J, Parenti I, Tan J, Turnpenny P, Whitehouse WP, Zuberi SM (2017) Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases. Epilepsia 58(4):565–575. https://doi.org/10.1111/epi.13669

    Article  CAS  PubMed  Google Scholar 

  2. Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tumer Z, Van Balkom IDC, Hennekam RC (2018) Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. #N/A 19 (10):649-666. https://doi.org/10.1038/s41576-018-0031-0

  3. Gorman KM, Forman E, Conroy J, Allen NM, Shahwan A, Lynch SA, Ennis S, King MD (2017) Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: expansion of the phenotype. Epilepsia 58(7):1301–1302. https://doi.org/10.1111/epi.13794

    Article  CAS  PubMed  Google Scholar 

  4. Chinen Y, Nakamura S, Kaneshi T, Nakayashiro M, Yanagi K, Kaname T, Naritomi K, Nakanishi K (2019) A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation. Human Genome Var 6:23. https://doi.org/10.1038/s41439-019-0053-y

    Article  Google Scholar 

  5. Pane C, Sacca F (2020) The use of medical grade cannabis in Italy for drug-resistant epilepsy: a case series. Neurol Sci 41(3):695–698. https://doi.org/10.1007/s10072-019-04162-1

    Article  PubMed  Google Scholar 

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Funding

This work was supported by grants from the National Natural Science Foundation of China (Grant Nos. 81974206), the Project from Hunan Provincial Science and Technology Department (2019SK1012), China, and the Scientific Research project of Hunan Provincial Commission of Health (C2019010), China.

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Author notes

  1. Hongjun Fang and Xi Zhang contributed equally to this work.

Authors and Affiliations

  1. Neurology Department, Hunan Children’s Hospital, Changsha, China

    Hongjun Fang

  2. Neurology Department, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China

    Xi Zhang, Bo Xiao, Lily Zhang & Hongyu Long

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  1. Hongjun Fang
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  2. Xi Zhang
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  3. Bo Xiao
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  4. Lily Zhang
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Correspondence to Lily Zhang or Hongyu Long.

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Fang, H., Zhang, X., Xiao, B. et al. A de novo mutation in SMC1A gene identified in a Chinese infant with nonclassical Cornelia de Lange syndrome and drug-resistant epilepsy. Neurol Sci 42, 329–331 (2021). https://doi.org/10.1007/s10072-020-04559-3

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