SCN1B‐linked early infantile developmental and epileptic encephalopathy
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50921
Abstract: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage‐gated sodium channel (VGSC) β1 and β1B non‐pore‐forming subunits. read more here.
Keywords: epileptic encephalopathy; linked early; scn1b linked; early infantile ... See more keywords
microRNA and Metabolite Signatures Linked to Early Consequences of Lethal Radiation
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DOI: 10.1038/s41598-020-62255-w
Abstract: Lethal total body irradiation (TBI) triggers multifactorial health issues in a potentially short time frame. Hence, early signatures of TBI would be of great clinical value. Our study aimed to interrogate microRNA (miRNA) and metabolites,… read more here.
Keywords: metabolite signatures; signatures linked; microrna metabolite; linked early ... See more keywords