Borgatti, R <br/><br/>
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.  [electronic resource] 

 -  Neurology  Jul 2004 
 - 57-65 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1526-632X 
<br/><br/><label>Standard No.: </label>10.1212/01.wnl.0000132979.08394.6d  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Animals<br/>Anticonvulsants--pharmacology<br/>CHO Cells<br/>Cricetinae<br/>Cricetulus<br/>Drug Resistance--genetics<br/>Epilepsies, Partial--drug therapy<br/>Epilepsy, Benign Neonatal--drug therapy<br/>Female<br/>Humans<br/>Infant, Newborn<br/>Intellectual Disability--genetics<br/>Ion Channel Gating<br/>Ion Transport<br/>KCNQ2 Potassium Channel<br/>Magnetic Resonance Imaging<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Point Mutation<br/>Potassium Channels, Voltage-Gated--chemistry<br/>Protein Conformation<br/>Protein Subunits<br/>Quadriplegia--genetics<br/>Structure-Activity Relationship