Venkateswaran, Sunita <br/><br/>
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.  [electronic resource] 

 -  Epilepsia  Jul 2014 
 - e75-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1528-1167 
<br/><br/><label>Standard No.: </label>10.1111/epi.12663  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Developmental Disabilities--complications<br/>Epilepsy--complications<br/>Exome--genetics<br/>Female<br/>Humans<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Receptors, N-Methyl-D-Aspartate--genetics<br/>Severity of Illness Index