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Stay informed about CLN2 disease resources, including a free epilepsy gene panel testing program that may help you diagnose CLN2 early.

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vpn服务器美国 to watch on-demand, a no–cost, live, educational webinar discussing the importance of early genetic testing in pediatric epilepsy - Insights from a CLN2 disease experience.

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游戏加速器推荐NGA

Children with CLN2 disease commonly experience a complete loss of cognitive abilities, motor function, and vision within the first decade of life.1,2

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Given the rapid rate of progression, early diagnosis is essential to ensure that families can benefit from CLN2-specific management strategies and maximize quality time.3,4

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Experts have identified CLN2 disease–specific management strategies that can greatly impact patient care and quality of life.4

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References:
1. Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases – clinical perspectives. Biochimica et Biophysica Acta. 2013;1832:1801-1806. 2. Mole SE, Williams RE. Neuronal ceroid-lipofuscinoses. 2001 Oct 10 [Updated 2013 Aug 1]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [internet]. Seattle, WA: University of Washington; 1993-2016. 3. Schulz A, Cohen-Pfeffer JL, Crystal R, et al. Neuronal ceroid lipofuscinosis-2 (CLN2) disorder, a type of Batten disease caused by TPP1 enzyme deficiency: current knowledge of the natural history from international experts. Poster session presented at: The Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium; September 2015; Lyon, France. 4. Williams RE, Adams HR, Blohm M, 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.