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Neonatal encephalopathy
- ... in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. This condition almost exclusively affects males and is ... the signs and symptoms of MECP2-related severe neonatal encephalopathy. More About This Health Condition Mutations in the ...
- ... Jonghe P. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012 Jan;71(1):15-25. ...
- ... Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding ...
- ... Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy. Am J Med Genet ...
- ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum ...