DISEASE: Neurodevelopmental disorder with glutamatergic synapse dysfunction
Entry
H02705 Disease
Name
Neurodevelopmental disorder with glutamatergic synapse dysfunction
Subgroup
NED with language impairment and behavioral abnormalities (NEDLIB) [DS:H02887] NED with or without seizures and gait abnormalities (NEDSGA) [DS:H02888] NED with or without hyperkinetic movements and seizures (NDHMSD/NDHMSR) [DS:H02865] NED with seizures, hypotonia, and brain abnormalities (NEDSHBA) [DS:H02886] NED with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) NED with hypotonia and dysmorphic facies (NEDHYDF) [DS:H02885]
Description
Glutamate is the major excitatory neurotransmitter in the central nervous system (CNS) and mediates its actions via activation of both ionotropic and metabotropic receptor families. Recent studies have shown that rare mutations in glutamate receptors and synaptic scaffold proteins are associated with neurodevelopmental disorders.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
Neurodevelopmental disorders
6A0Y Other specified neurodevelopmental disorders
H02705 Neurodevelopmental disorder with glutamatergic synapse dysfunction
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Mannikko R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Penas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H
Title
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.