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Article

<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

1 Mar 2014

Abstract excerpt

Objective Early-onset epileptic encephalopathies have been associated with de novo mutations of numerous ion channel genes. We employed techniques of modern translational medicine to identify a disease-causing mutation, analyze its altered behavior, and screen for therapeutic compounds to treat the proband. Methods Three modern translational medicine tools were utilized: (1) high-throughput sequencing technology...

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PMID: 24839611
DOI: 10.1002/acn3.39

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