TY  - GEN
AU  - Knaus,Alexej
AU  - Kortüm,Fanny
AU  - Kleefstra,Tjitske
AU  - Stray-Pedersen,Asbjørg
AU  - Đukić,Dejan
AU  - Murakami,Yoshiko
AU  - Gerstner,Thorsten
AU  - van Bokhoven,Hans
AU  - Iqbal,Zafar
AU  - Horn,Denise
AU  - Kinoshita,Taroh
AU  - Hempel,Maja
AU  - Krawitz,Peter M
TI  - Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
SN  - 1537-6605
PY  - 2020///0316
KW  - Acyltransferases
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Sequence
KW  - Brain Diseases
KW  - etiology
KW  - Child
KW  - Child, Preschool
KW  - Epilepsy
KW  - Female
KW  - Glycosylphosphatidylinositols
KW  - biosynthesis
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Seizures
KW  - Sequence Homology
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2019.06.009
ER  -