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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...
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| Publicado no: | Ann Indian Acad Neurol |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer - Medknow
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7887506/ https://ncbi.nlm.nih.gov/pubmed/33623275 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/aian.AIAN_365_18 |
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