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Neonatal epilepsy syndrome
- ... Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset ... M. Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation ...
- ... MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6;95( ...