McGraw-Hill Medical Pub
When mitochondria fail to function optimally, the body may experience: Increased oxidative stress Reduced cellular energy production Altered neurotransmitter balance Increased inflammation in the brain These factors can influence how neurons communicate, potentially contributing to the behavioral and cognitive characteristics associated with autism
Kim S, Keku TO, Martin C, Galanko J, Woosley JT, Schroeder JC, et al
Concerning the young age of the patient, research on the pathogenic variant in phacomatosis susceptibility genes ( NF1, NF2, SPRED1, SMARCB1, LZTR1) and other 24 genes relevant in the pathogenesis of nervous system tumors ( TP53, EGFR, PDGFRA, PTEN, PIK3CA, PIK3R, RB1, NOTCH1, CDK4, CDKN2A, CDKN2B, IDH1, IDH2, FUBP1 CIC, TACC3, TERTp, ATRX, DAXX, FGFR3, ACVR1, H3F3A, KIAA1549 BRAF) , was performed using a customized gene panel on lymphocyte DNA and tumor tissue