Emily S Doherty
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View article: Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care Open
Focal malformations of cortical development including focal cortical dysplasia, hemimegalencephaly and megalencephaly, are a spectrum of neurodevelopmental disorders associated with brain overgrowth, cellular and architectural dysplasia, i…
View article: Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights
Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insights Open
Focal malformations of cortical development (FMCD) including focal cortical dysplasia (FCD), hemimegalencephaly (HMEG) and megalencephaly (MEG), constitute a spectrum of neurodevelopmental disorders associated with brain overgrowth, cellul…
View article: Diffuse Gastric Ganglioneuromatosis: Novel Presentation of<i>PTEN</i>Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel<i>PTEN</i>Gene Mutation
Diffuse Gastric Ganglioneuromatosis: Novel Presentation of<i>PTEN</i>Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel<i>PTEN</i>Gene Mutation Open
Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglion…
View article: Delineating the <i>GRIN1</i> phenotypic spectrum
Delineating the <i>GRIN1</i> phenotypic spectrum Open
De novo GRIN1 mutations are associated with severe intellectual disability with cortical visual impairment as well as oculomotor and movement disorders being discriminating phenotypic features. Loss of NMDA receptor function appears to be …