GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Dong Li, Hongjie Yuan, Xilma R Ortiz-Gonzalez, Eric D Marsh, Lifeng Tian, Elizabeth M McCormick, Gabrielle J Kosobucki, Wenjuan Chen, Anthony J Schulien, Rosetta Chiavacci, Anel Tankovic, Claudia Naase, Frieder Brueckner, Celina von Stülpnagel-Steinbeis (Co-author), Chun Hu, Hirofumi Kusumoto, Ulrike B S Hedrich, Gina Elsen, Konstanze Hörtnagel, Elias AizenmanJohannes R Lemke, Hakon Hakonarson, Stephen F Traynelis, Marni J Falk

Research output: Contribution to journalOriginal Article (Journal)peer-review

119 Citations (Web of Science)
Original languageEnglish
Pages (from-to)802-816
JournalAMERICAN JOURNAL OF HUMAN GENETICS
Volume99
Issue number4
DOIs
Publication statusPublished - 2016

Keywords

  • MENDELIAN DISORDERS
  • SPECTRUM DISORDERS
  • SEQUENCING DATA
  • FOCAL EPILEPSY
  • QUINIDINE
  • MEMANTINE
  • CHILDREN
  • SUBUNITS
  • THERAPY
  • APHASIA

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