Madeo, Marianna <br/><br/>
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.  [electronic resource] 

 -  American journal of human genetics  06 2016 
 - 1249-1255 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2016.04.008  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain Diseases--genetics<br/>Electrophysiology<br/>Epilepsy--genetics<br/>Female<br/>Humans<br/>Hyperkinesis--genetics<br/>Infant<br/>Male<br/>Membrane Proteins--genetics<br/>Mutation--genetics<br/>Nerve Tissue Proteins--genetics<br/>Pedigree<br/>Synaptic Transmission--physiology<br/>alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid--metabolism