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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887506/ https://www.ncbi.nlm.nih.gov/pubmed/33623275 http://dx.doi.org/10.4103/aian.AIAN_365_18 |