Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.

Kessi, Miriam; Chen, Baiyu; Shan, Li-Dan; Wang, Ying; Yang, Lifen; Yin, Fei; He, Fang; Peng, Jing; Wang, Guoli

Kessi, Miriam; Chen, Baiyu; Shan, Li-Dan; Wang, Ying; Yang, Lifen; Yin, Fei; He, Fang; Peng, Jing; Wang, Guoli.

Afiliación

Kessi M; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
Chen B; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Shan LD; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
Wang Y; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Yang L; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
Yin F; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
He F; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
Peng J; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Wang G; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.

BMC Med Genomics ; 16(1): 46, 2023 03 07.

Article en En | MEDLINE | ID: mdl-36882827

Asunto(s)

Estudios de Asociación Genética; Discapacidad Intelectual; Proteínas Munc18; Nitrazepam; Femenino; Humanos; Masculino; Hormona Adrenocorticotrópica; China; Levetiracetam; Proteínas Munc18/genética; Fenobarbital; Fenotipo; Estudios Retrospectivos; Topiramato; Ácido Valproico; Vigabatrin

Palabras clave

Epilepsy; Genotype-phenotype correlation; Global developmental delay; Intellectual disability; STXBP1-related disorders; Treatments

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Munc18 / Estudios de Asociación Genética / Discapacidad Intelectual / Nitrazepam Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google