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A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
Ma, Hongying; Feng, Shenglei; Deng, Xuejun; Wang, Li; Zeng, Sheng; Wang, Cheng; Ma, Xixiang; Sun, Hao; Chen, Rui; Du, Shiyue; Mao, Jinglin; Zhang, Xianwei; Ma, Cong; Jiang, Hong; Zhang, Luoying; Tang, Beisha; Liu, Jing Yu.
Afiliação
  • Ma H; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Feng S; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Deng X; Department of Neurology, Union Hospital of Huazhong University of Science and Technology, Wuhan, China.
  • Wang L; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Zeng S; Department of Neurology, Xiangya Hospital, Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
  • Wang C; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Ma X; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Sun H; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Chen R; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Du S; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Mao J; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Zhang X; Department of Anesthesiology, Tongji Hospital of Huazhong University of Science and Technology, Wuhan, China.
  • Ma C; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Jiang H; Department of Neurology, Xiangya Hospital, Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
  • Zhang L; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
  • Tang B; Department of Neurology, Xiangya Hospital, Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China.
  • Liu JY; Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.
Epilepsia ; 59(8): 1621-1630, 2018 08.
Article em En | MEDLINE | ID: mdl-30009426
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Saúde da Família / Epilepsia Neonatal Benigna / Distonia / Sintaxina 1 / Proteínas de Membrana / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Epilepsia Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Saúde da Família / Epilepsia Neonatal Benigna / Distonia / Sintaxina 1 / Proteínas de Membrana / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Epilepsia Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China