TY  - GEN
AU  - Chung,Hyung-Lok
AU  - Mao,Xiao
AU  - Wang,Hua
AU  - Park,Ye-Jin
AU  - Marcogliese,Paul C
AU  - Rosenfeld,Jill A
AU  - Burrage,Lindsay C
AU  - Liu,Pengfei
AU  - Murdock,David R
AU  - Yamamoto,Shinya
AU  - Wangler,Michael F
AU  - Chao,Hsiao-Tuan
AU  - Long,Hongyu
AU  - Feng,Li
AU  - Bacino,Carlos A
AU  - Bellen,Hugo J
AU  - Xiao,Bo
TI  - De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy
SN  - 1537-6605
PY  - 2020///0727
KW  - Adult
KW  - Amino Acid Sequence
KW  - Animals
KW  - Brain Diseases
KW  - genetics
KW  - Child, Preschool
KW  - Cyclin-Dependent Kinase 8
KW  - deficiency
KW  - Cyclin-Dependent Kinases
KW  - Drosophila Proteins
KW  - Drosophila melanogaster
KW  - Epilepsy, Generalized
KW  - Female
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Male
KW  - Mutation, Missense
KW  - Neuromuscular Junction
KW  - Rare Diseases
KW  - Seizures
KW  - Syndrome
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2020.04.001
ER  -