Phenotypes and Genotypes in Patients with <i>SMC1A</i>-Related Developmental and Epileptic Encephalopathy.

Bozarth, Xiuhua L; Lopez, Jonathan; Fang, He; Lee-Eng, Jacqueline; Duan, Zhijun; Deng, Xinxian

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.

Bozarth, Xiuhua L; Lopez, Jonathan; Fang, He; Lee-Eng, Jacqueline; Duan, Zhijun; Deng, Xinxian.

Afiliación

Bozarth XL; Division of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA.
Lopez J; Division of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA.
Fang H; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Lee-Eng J; Division of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA.
Duan Z; Division of Hematology, University of Washington, Seattle, WA 98195, USA.
Deng X; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA 98195, USA.

Genes (Basel) ; 14(4)2023 03 31.

Article en En | MEDLINE | ID: mdl-37107610

Asunto(s)

Encefalopatías; Síndrome de Cornelia de Lange; Masculino; Femenino; Humanos; Síndrome de Cornelia de Lange/genética; Genes cdc; Genotipo; Fenotipo; Encefalopatías/genética

Palabras clave

SMC1A; SMC1A-DEE; X-chromosome inactivation; developmental and epileptic encephalopathy; epilepsy; escape

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encefalopatías / Síndrome de Cornelia de Lange Límite: Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza

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