Schlingmann, Karl P <br/><br/>
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.  [electronic resource] 

 -  American journal of human genetics  11 2018 
 - 808-816 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2018.10.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Female<br/>Germ Cells<br/>Heterozygote<br/>Homeostasis--genetics<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Intellectual Disability--genetics<br/>Kidney--pathology<br/>Magnesium--metabolism<br/>Male<br/>Mutation--genetics<br/>Phenotype<br/>Protein Isoforms--genetics<br/>Renal Tubular Transport, Inborn Errors--genetics<br/>Seizures--genetics<br/>Sodium-Potassium-Exchanging ATPase--genetics