Albert DV, Yin H, De Los Reyes EC, Vidaurre J. Unique Characteristics of the photoparoxysmal response in patients with neuronal ceroid lipofuscinosis type 2: can EEG be a biomarker? J Child Neurol. 2016;31:1475-1482.

Åndell E, Tomson T, Carlsson S, et al. The incidence of unprovoked seizures and occurrence of neurodevelopmental comorbidities in children at the time of their first epileptic seizure and during the subsequent six months. Epilepsy Res. 2015;113:140-150.

Chang M, Cooper JD, Davidson BL, et al. CLN2. In: Mole S, Williams R, and Goebel HH, eds. The neuronal ceroid lipofuscinoses (Batten Disease). 2nd ed. Oxford, United Kingdom: Oxford University Press; 2011:80-109.

Claussen M, Heim P, Knispel J, Goebel HH, Kohlschütter A. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet. 1992;42:536-538.

Fietz M, AlSayed M, Burke D, 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.

Fietz M, Giugliani R, AlSayed M, et al. Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): diagnostic algorithm and best practice guidelines for a timely diagnosis. Poster session presented at: The 12th Annual WORLD Symposium; February–March 2016; San Diego, CA.

Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochimica et Biophysica Acta. 2006;1762:850-856.

Johannsen J, Nickel M, Schulz A, Denecke J. Considering valproate as a risk factor for rapid exacerbation of complex movement disorder in progressed stages of late-infantile CLN2 disease. Neuropediatrics. 2016;47:194-196.

Kousi M, Lehesjoki A-E, Mole SE. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat. 2012;33:42-63.

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.

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.

Nickel M, Jacoby D, Lezius S, et al. Natural history of CLN2 disease: quantitative assessment of disease characteristics and rate of progression. Poster session presented at: The 12th Annual WORLD Symposium; February - March 2016; San Diego, CA.

Orlin A, Sondhi D, Witmer MT, et al. Spectrum of ocular manifestations in CLN2-associated Batten (Jansky-Bielschowsky) Disease correlate with advancing age and deteriorating neurological function. PLoS One. 2013;8:e73128. doi:10.1371/journal.pone.0073128.

Pérez-Poyato MS, Marfa MP, Abizanda IF, 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.

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.

Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochimica et Biophysica Acta. 2013;1832:1801-1806.

Steinfeld R, Heim P, von Gregory H, et al. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet. 2002;112:347-354.

Williams RE, Aberg L, Autti T, et al. Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochimica et Biophysica Acta. 2006;1762:865-872.

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.

Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012;79:183-191.

Worgall S, Sondhi D, Hackett NR, et al. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum Gene Ther. 2008;19:463-474.