TY  - GEN
AU  - Venkateswaran,Sunita
AU  - Myers,Ken A
AU  - Smith,Amanda C
AU  - Beaulieu,Chandree L
AU  - Schwartzentruber,Jeremy A
AU  - Majewski,Jacek
AU  - Bulman,Dennis
AU  - Boycott,Kym M
AU  - Dyment,David A
TI  - Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
SN  - 1528-1167
PY  - 2014///0922
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - complications
KW  - Epilepsy
KW  - Exome
KW  - genetics
KW  - Female
KW  - Humans
KW  - Mutation, Missense
KW  - Pedigree
KW  - Receptors, N-Methyl-D-Aspartate
KW  - Severity of Illness Index
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/epi.12663
ER  -