Identification of a novel mutation in GRIN2A gene with global developmental delay and refractory epilepsy

Autor:	Esra Sarigecili, Meltem Cobanogullari Direk, Mustafa Komur, Sevcan Tug Bozdogan, Cetin Okuyaz
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	epilepsy grin2a neurodevelopmental delay nystagmus whole-exome sequencing Neurology. Diseases of the nervous system RC346-429
Zdroj:	Annals of Indian Academy of Neurology, Vol 23, Iss 5, Pp 696-699 (2020)
Druh dokumentu:	article
ISSN:	0972-2327 1998-3549
DOI:	10.4103/aian.AIAN_365_18
Popis:	We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exome sequencing was carried out which revealed a heterozygote NM_001134407.2:C.3299A>G (p.Glu1100Gly) novel mutation in GRIN2A gene. Topiramate was started and seizures were rapidly brought under control. GRIN2A mutations may result in altered GluN2A membrane trafficking and response to glutamate. This report illustrates the clinical variability of GRIN2A mutations according to the age of onset of symptoms and suggests considering mutations in this gene in cases of global developmental delay, refractory epilepsy, and nystagmus.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/2a99ea9e455745798d5fbefec64d7096 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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