KEGG DISEASE: Neurodevelopmental disorder with or without hyperkinetic movements and seizures

DISEASE: Neurodevelopmental disorder with or without hyperkinetic movements and seizures

Entry

H02865                      Disease

Name

Neurodevelopmental disorder with or without hyperkinetic movements and seizures

Supergrp

Neurodevelopmental disorder with glutamatergic synapse dysfunction [DS:H02705]

Description

Neurodevelopmental disorder with or without hyperkinetic movements and seizures (NDHMSD/NDHMSR) is a severe neurodevelopmental condition inherited in either an autosomal dominant or autosomal recessive manner. This disorder is caused by mutations in the GRIN1 gene, which encodes the NMDA receptor subunit GluN1. The underlying disease mechanism appears to involve a loss of NMDA receptor function.

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
    H02865  Neurodevelopmental disorder with or without hyperkinetic movements and seizures
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06528  Calcium signaling
   H02865  Neurodevelopmental disorder with or without hyperkinetic movements and seizures
Cellular process
  nt06544  Neuroactive ligand signaling
   H02865  Neurodevelopmental disorder with or without hyperkinetic movements and seizures

Pathway

hsa04724

Glutamatergic synapse

hsa04082

Neuroactive ligand signaling

Network

nt06528 Calcium signaling
nt06544 Neuroactive ligand signaling

Gene

GRIN1 [HSA:2902] [KO:K05208]

Other DBs

ICD-11:

6A0Y

OMIM:

614254 617820

Reference

PMID:27164704

Authors

Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Moller RS, Hjalgrim H, Lal D, Neubauer BA, Nurnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Stromme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sa J, Mendonca C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S

Title

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Journal

Neurology 86:2171-8 (2016)
DOI:10.1212/WNL.0000000000002740

Reference

PMID:28051072

Authors

Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, des Portes V, Lemke JR, Sanlaville D, Lesca G

Title

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

Journal

Eur J Hum Genet 25:376-380 (2017)
DOI:10.1038/ejhg.2016.163

LinkDB

» Japanese version

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