Erken tanı gerekliliği - Cln2Connection

CLN2 hastalığının belirtileri ve semptomları epilepsinin de ötesindedir

Referanslar: 1. Fietz M et al. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016, 119:160–167 2. Williams RE et al. Expert opinion on the management of CLN2 disease. Poster session presented at: The 12th Annual WORLD Symposium, February – March 2016, San Diego, CA. 3. Chang M et al. CLN2. In: Mole S, Williams R, and Goebel H, eds. The neuronal ceroid lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press, 2011:80-109. 4. Pérez-Poyato MS et al. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. J Child Neurol. 2013,28:470-478. 5. Mole SE, Williams RE, and Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005,6:107-126.