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GRIN1mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders
- Source :
- Epilepsia. 56:841-848
- Publication Year :
- 2015
- Publisher :
- Wiley, 2015.
-
Abstract
- SummaryObjective Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations. Methods Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset A) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one patient. Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the NMDA receptor. Significance Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders.
- Subjects :
- Male
Movement disorders
Adolescent
DNA Mutational Analysis
Encephalopathy
Mutation, Missense
Stereotypic Movement Disorder
Nerve Tissue Proteins
Hyperkinesis
Biology
medicine.disease_cause
Receptors, N-Methyl-D-Aspartate
Epilepsy
medicine
Humans
Missense mutation
Genetic Predisposition to Disease
Child
Exome sequencing
Genetics
Brain Diseases
Mutation
Electroencephalography
medicine.disease
Magnetic Resonance Imaging
Hypsarrhythmia
Neurology
Child, Preschool
Immunology
Female
Neurology (clinical)
medicine.symptom
Age of onset
Subjects
Details
- ISSN :
- 00139580
- Volume :
- 56
- Database :
- OpenAIRE
- Journal :
- Epilepsia
- Accession number :
- edsair.doi.dedup.....40809a21d49d4c2a8f1bcfb6ffa4bd10