| 概要 |
Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) is an autosomal dominant disorder characterized by intellectual disability, problems of social behavior, and other variable features. Mutations in GRIA4, encoding AMPA receptor GluR4 subunit, have been reported to cause this disorder.
|
|---|
| 著者 |
Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R |
|---|
