A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference5 articles.
1. Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans;Wu;Proc. Natl. Acad. Sci. U. S. A.,2007
2. GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy;Trivisano;Seizure,2020
3. The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient;Martinez-Esteve Melnikova;Eur. J. Med. Genet.,2022
4. The GRIA3 c.2477G > A variant causes an exaggerated startle reflex, chorea, and multifocal myoclonus;Piard;Mov. Disord.,2020
5. X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3;Sun;PLoS Genet.,2021
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