Johannesen, Katrine M <br/><br/>
Defining the phenotypic spectrum of SLC6A1 mutations.  [electronic resource] 

 -  Epilepsia  02 2018 
 - 389-402 p.  digital 
<br/><br/> Publication Type: 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.13986  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Anticonvulsants--therapeutic use<br/>Ataxia--complications<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>Electroencephalography<br/>Epilepsies, Myoclonic--complications<br/>Epilepsies, Partial--complications<br/>Epilepsy, Generalized--complications<br/>Female<br/>GABA Plasma Membrane Transport Proteins--genetics<br/>Genetic Association Studies<br/>Humans<br/>Intellectual Disability--complications<br/>Language Development Disorders--complications<br/>Male<br/>Mutation<br/>Mutation, Missense<br/>Neurodevelopmental Disorders--complications<br/>Phenotype<br/>Treatment Outcome<br/>Valproic Acid--therapeutic use<br/>Young Adult