Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Schlingmann, Karl P

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

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2018.10.004 doi


Child
Child, Preschool
Female
Germ Cells
Heterozygote
Homeostasis--genetics
Humans
Infant
Infant, Newborn
Intellectual Disability--genetics
Kidney--pathology
Magnesium--metabolism
Male
Mutation--genetics
Phenotype
Protein Isoforms--genetics
Renal Tubular Transport, Inborn Errors--genetics
Seizures--genetics
Sodium-Potassium-Exchanging ATPase--genetics