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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.
Wei, Aguan D; Wakenight, Paul; Zwingman, Theresa A; Bard, Angela M; Sahai, Nikhil; Willemsen, Marjolein H; Schelhaas, Helenius J; Stegmann, Alexander P A; Verhoeven, Judith S; de Man, Stella A; Wessels, Marja W; Kleefstra, Tjitske; Shinde, Deepali N; Helbig, Katherine L; Basinger, Alice; Wagner, Victoria F; Rodriguez-Buritica, David; Bryant, Emily; Millichap, John J; Millen, Kathleen J; Dobyns, William B; Ramirez, Jan-Marino; Kalume, Franck K.
Afiliação
  • Wei AD; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Wakenight P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Zwingman TA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Bard AM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Sahai N; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Willemsen MH; Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schelhaas HJ; Department of Human Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Stegmann APA; Department of Neurology, Academic Centre for Epileptology Kempenhaeghe, Heeze, The Netherlands.
  • Verhoeven JS; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • de Man SA; Department of Neurology, Academic Centre for Epileptology Kempenhaeghe, Heeze, The Netherlands.
  • Wessels MW; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.
  • Kleefstra T; Department of Human Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
  • Shinde DN; Department of Human Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands.
  • Helbig KL; Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Basinger A; Ambry Genetics, Aliso Viejo, California.
  • Wagner VF; Ambry Genetics, Aliso Viejo, California.
  • Rodriguez-Buritica D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Bryant E; Medical Genetics, Cook Children's Hospital, Fort Worth, Texas.
  • Millichap JJ; Department of Pediatrics, University of Texas Health Science Center, Houston, Texas.
  • Millen KJ; Department of Pediatrics, University of Texas Health Science Center, Houston, Texas.
  • Dobyns WB; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
  • Ramirez JM; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
  • Kalume FK; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
J Neurophysiol ; 128(1): 40-61, 2022 07 01.
Article em En | MEDLINE | ID: mdl-35583973
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Deficiência Intelectual Limite: Animals / Child / Humans Idioma: En Revista: J Neurophysiol Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Deficiência Intelectual Limite: Animals / Child / Humans Idioma: En Revista: J Neurophysiol Ano de publicação: 2022 Tipo de documento: Article