TY  - GEN
AU  - Stergachis,Andrew B
AU  - Pujol-Giménez,Jonai
AU  - Gyimesi,Gergely
AU  - Fuster,Daniel
AU  - Albano,Giusppe
AU  - Troxler,Marina
AU  - Picker,Jonathan
AU  - Rosenberg,Paul A
AU  - Bergin,Ann
AU  - Peters,Jurriaan
AU  - El Achkar,Christelle Moufawad
AU  - Harini,Chellamani
AU  - Manzi,Shannon
AU  - Rotenberg,Alexander
AU  - Hediger,Matthias A
AU  - Rodan,Lance H
TI  - Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism
SN  - 1531-8249
PY  - 2020///0330
KW  - Amino Acid Sequence
KW  - Ceftriaxone
KW  - therapeutic use
KW  - Child, Preschool
KW  - Epilepsy, Generalized
KW  - diagnosis
KW  - Excitatory Amino Acid Transporter 2
KW  - chemistry
KW  - Female
KW  - Genetic Variation
KW  - genetics
KW  - HEK293 Cells
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Protein Structure, Secondary
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ana.25477
ER  -