Expanded Clinical Phenotype Spectrum Correlates with Variant Function in SCN2A-Related Disorders

Medicine, Basic Medical Sciences, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Genetics,
SCN2A   epilepsy   autism   developmental epileptic encephalopathy   ion channel   genetic variant  

Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...

Cortical gene expression architecture links healthy neurodevelopment to the imaging, transcriptomics and genetics of autism and schizophrenia

Medicine, Psychiatry, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
neurodevelopment   gene expression   autism   schizophrenia   neuroimaging  

Linking Healthy Neurodevelopment with Imaging, Transcriptomic, and Genetic Associations in Autism Spectrum Disorder and Schizophrenia: A Study of Cortical Gene Expression Patterns Background: How does the complex anatomy and functional organization of the human brain develop from the expression of more than 20,000 genes? And how does this process g...