Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.

Lu, Qian; Zhang, Meng-Na; Shi, Xiu-Yu; Zhang, Ling-Qiang; Wang, Yang-Yang; Liu, Li-Ying; He, Wen; Chen, Hui-Min; He, Bing; Zou, Li-Ping

Lu, Qian; Zhang, Meng-Na; Shi, Xiu-Yu; Zhang, Ling-Qiang; Wang, Yang-Yang; Liu, Li-Ying; He, Wen; Chen, Hui-Min; He, Bing; Zou, Li-Ping.

Lu Q; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Zhang MN; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Shi XY; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Zhang LQ; State Key Laboratory of Proteomics, National Center of Protein Sciences (Beijing), Beijing Institute of Lifeomics, Beijing, China.
Wang YY; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Liu LY; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
He W; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Chen HM; Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China.
He B; Division of Matrix Biology, Department of Medical Biochemistry and Biophysics (MBB), Karolinksa Institute, Stockholm, Sweden.
Zou LP; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.

Am J Med Genet A ; 185(2): 377-383, 2021 02.

Article en En | MEDLINE | ID: mdl-33205896

Asunto(s)

Encefalopatías/genética; Discapacidad Intelectual/genética; Ubiquitina-Proteína Ligasas/genética; Proteínas de Pez Cebra/genética; Adolescente; Animales; Encefalopatías/epidemiología; Encefalopatías/patología; Niño; Preescolar; Modelos Animales de Enfermedad; Predisposición Genética a la Enfermedad; Humanos; Lactante; Discapacidad Intelectual/epidemiología; Discapacidad Intelectual/patología; Masculino; Mutación/genética; Secuenciación del Exoma; Pez Cebra/genética

Palabras clave

HECW2; developmental encephalopathy; epilepsy; zebrafish model

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas de Pez Cebra / Ubiquitina-Proteína Ligasas / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Adolescent / Animals / Child / Child, preschool / Humans / Infant / Male Idioma: En Año: 2021 Tipo del documento: Article

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