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

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

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 het...

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Bibliographic Details
Main Authors: Esra Sarigecili, Meltem Cobanogullari Direk, Mustafa Komur, Sevcan Tug Bozdogan, Cetin Okuyaz
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
epilepsy
grin2a
neurodevelopmental delay
nystagmus
whole-exome sequencing
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=696;epage=699;aulast=

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=696;epage=699;aulast=

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