An epileptic encephalopathy associated GABRG2 missense mutation leads to pre- and postsynaptic defects in zebrafish.

Zhou, Jing; Liang, Wenpeng; Wang, Jie; Chen, Juan; Liu, Dong; Wang, Xin; Wu, Youjia; Zhang, Qi; Shen, Dingding

Zhou, Jing; Liang, Wenpeng; Wang, Jie; Chen, Juan; Liu, Dong; Wang, Xin; Wu, Youjia; Zhang, Qi; Shen, Dingding.

Afiliação

Zhou J; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Liang W; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Wang J; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Chen J; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Liu D; School of Life Science, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Wang X; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Wu Y; Department of Pediatrics, Affiliated Hospital of Nantong University, Nantong, China.
Zhang Q; Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Shen D; Department of Neurology & Collaborative Innovation Center for Brain Science, Ruijin Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.

Hum Mol Genet ; 31(19): 3216-3230, 2022 09 29.

Article em En | MEDLINE | ID: mdl-34957497

Assuntos

Encefalopatias; Receptores de GABA-A; Animais; Humanos; Mutação; Mutação de Sentido Incorreto/genética; Receptores de GABA-A/genética; Receptores de GABA-A/metabolismo; Convulsões; Peixe-Zebra/genética; Peixe-Zebra/metabolismo; Ácido gama-Aminobutírico/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Receptores de GABA-A Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China

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