Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy

Eitemau Tebyg

• A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
  gan: Kai Gao, et al.
  Cyhoeddwyd: (2017-01-01)
• A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia
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  Cyhoeddwyd: (2017)
• Identification of a Novel Mutation in GRIN2A Gene with Global Developmental Delay and Refractory Epilepsy
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  Cyhoeddwyd: (2020)
• A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
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  Cyhoeddwyd: (2017)
• GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
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  Cyhoeddwyd: (2016)