Category: 6. Health

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  • GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases

    GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications | Orphanet Journal of Rare Diseases

    We identified 98 individuals with pathogenic or likely pathogenic GRIN2B variants from 23 publications [11, 16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37]. Additionally, we reported the clinical data for seven novel cases…

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  • New mechanism behind potentially fatal type of epilepsy identified

    New mechanism behind potentially fatal type of epilepsy identified

    A team led by the UAB Institut de Neurociències (INc-UAB) has for the first time identified the mechanism behind a potentially fatal type of epilepsy, a symptom of mitochondrial diseases. The discovery, based on mouse models,…

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  • Full-Field Electroretinographic Evaluation of a Case With Benign Lobular Inner Nuclear Layer Proliferations of the Retina

    Full-Field Electroretinographic Evaluation of a Case With Benign Lobular Inner Nuclear Layer Proliferations of the Retina

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