TY  - GEN
AU  - Schlingmann,Karl P
AU  - Bandulik,Sascha
AU  - Mammen,Cherry
AU  - Tarailo-Graovac,Maja
AU  - Holm,Rikke
AU  - Baumann,Matthias
AU  - König,Jens
AU  - Lee,Jessica J Y
AU  - Drögemöller,Britt
AU  - Imminger,Katrin
AU  - Beck,Bodo B
AU  - Altmüller,Janine
AU  - Thiele,Holger
AU  - Waldegger,Siegfried
AU  - Van't Hoff,William
AU  - Kleta,Robert
AU  - Warth,Richard
AU  - van Karnebeek,Clara D M
AU  - Vilsen,Bente
AU  - Bockenhauer,Detlef
AU  - Konrad,Martin
TI  - Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
SN  - 1537-6605
PY  - 2019///0514
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Germ Cells
KW  - Heterozygote
KW  - Homeostasis
KW  - genetics
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Kidney
KW  - pathology
KW  - Magnesium
KW  - metabolism
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Protein Isoforms
KW  - Renal Tubular Transport, Inborn Errors
KW  - Seizures
KW  - Sodium-Potassium-Exchanging ATPase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2018.10.004
ER  -