TY - JOUR AU - Orsini, A. AU - Zara, F. AU - Striano, P. PY - 2018 DA - 2018// TI - Recent advances in epilepsy genetics JO - Neurosci Lett VL - 667 UR - https://doi.org/10.1016/j.neulet.2017.05.014 DO - 10.1016/j.neulet.2017.05.014 ID - Orsini2018 ER - TY - JOUR AU - Hildebrand, M. S. AU - Dahl, H. H. AU - Damiano, J. A. AU - Smith, R. J. AU - Scheffer, I. E. AU - Berkovic, S. F. PY - 2013 DA - 2013// TI - Recent advances in the molecular genetics of epilepsy JO - J Med Genet VL - 50 UR - https://doi.org/10.1136/jmedgenet-2012-101448 DO - 10.1136/jmedgenet-2012-101448 ID - Hildebrand2013 ER - TY - JOUR AU - Striano, P. AU - Vari, M. S. AU - Mazzocchetti, C. AU - Verrotti, A. AU - Zara, F. PY - 2016 DA - 2016// TI - Management of genetic epilepsies: from empirical treatment to precision medicine JO - Pharmacol Res VL - 107 UR - https://doi.org/10.1016/j.phrs.2016.04.006 DO - 10.1016/j.phrs.2016.04.006 ID - Striano2016 ER - TY - JOUR AU - Scala, M. AU - Bianchi, A. AU - Bisulli, F. AU - Coppola, A. AU - Elia, M. AU - Trivisano, M. PY - 2020 DA - 2020// TI - Advances in genetic testing and optimization of clinical management in children and adults with epilepsy JO - Expert Rev Neurother VL - 20 UR - https://doi.org/10.1080/14737175.2020.1713101 DO - 10.1080/14737175.2020.1713101 ID - Scala2020 ER - TY - JOUR AU - Williams, R. E. AU - Adams, H. R. AU - Blohm, M. AU - Cohen-Pfeffer, J. L. AU - Los, R. E. AU - Denecke, J. PY - 2017 DA - 2017// TI - Management strategies for CLN2 disease JO - Pediatr Neurol VL - 69 UR - https://doi.org/10.1016/j.pediatrneurol.2017.01.034 DO - 10.1016/j.pediatrneurol.2017.01.034 ID - Williams2017 ER - TY - JOUR AU - Haltia, M. AU - Goebel, H. H. PY - 2013 DA - 2013// TI - The neuronal ceroid-lipofuscinoses: a historical introduction JO - Biochim Biophys Acta VL - 1832 UR - https://doi.org/10.1016/j.bbadis.2012.08.012 DO - 10.1016/j.bbadis.2012.08.012 ID - Haltia2013 ER - TY - JOUR AU - Uvebrant, P. AU - Hagberg, B. PY - 1997 DA - 1997// TI - Neuronal Ceroid Lipofuscinoses in Scandinavia. Epidemiology and Clinical Pictures JO - Neuropediatrics VL - 28 UR - https://doi.org/10.1055/s-2007-973654 DO - 10.1055/s-2007-973654 ID - Uvebrant1997 ER - TY - JOUR AU - Nita, D. A. AU - Mole, S. E. AU - Minassian, B. A. PY - 2016 DA - 2016// TI - Neuronal ceroid lipofuscinoses JO - Epileptic Disord VL - 18 UR - https://doi.org/10.1684/epd.2016.0844 DO - 10.1684/epd.2016.0844 ID - Nita2016 ER - TY - JOUR AU - Zhong, N. AU - Wisniewski, K. E. AU - Hartikainen, J. AU - Ju, W. AU - Moroziewicz, D. N. AU - McLendon, L. PY - 1998 DA - 1998// TI - Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis JO - Clin Genet VL - 54 UR - https://doi.org/10.1111/j.1399-0004.1998.tb04291.x DO - 10.1111/j.1399-0004.1998.tb04291.x ID - Zhong1998 ER - TY - JOUR AU - Sleat, D. E. AU - Donnelly, R. J. AU - Lackland, H. AU - Liu, C. G. AU - Sohar, I. AU - Pullarkat, R. K. PY - 1997 DA - 1997// TI - Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis JO - Science VL - 277 UR - https://doi.org/10.1126/science.277.5333.1802 DO - 10.1126/science.277.5333.1802 ID - Sleat1997 ER - TY - JOUR AU - Sleat, D. E. AU - Gin, R. M. AU - Sohar, I. AU - Wisniewski, K. AU - Sklower-Brooks, S. AU - Pullarkat, R. K. PY - 1999 DA - 1999// TI - Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder JO - Am J Hum Genet VL - 64 UR - https://doi.org/10.1086/302427 DO - 10.1086/302427 ID - Sleat1999 ER - TY - JOUR AU - Helbig, K. L. AU - Farwell Hagman, K. D. AU - Shinde, D. N. AU - Mroske, C. AU - Powis, Z. AU - Li, S. PY - 2016 DA - 2016// TI - Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy JO - Genet Med. VL - 18 UR - https://doi.org/10.1038/gim.2015.186 DO - 10.1038/gim.2015.186 ID - Helbig2016 ER - TY - JOUR AU - Gardner, E. AU - Bailey, M. AU - Schulz, A. AU - Aristorena, M. AU - Miller, N. AU - Mole, S. E. PY - 2019 DA - 2019// TI - Mutation update: review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease JO - Hum Mutat VL - 40 UR - https://doi.org/10.1002/humu.23860 DO - 10.1002/humu.23860 ID - Gardner2019 ER - TY - JOUR AU - Pal, A. AU - Kraetzner, R. AU - Gruene, T. AU - Grapp, M. AU - Schreiber, K. AU - Grønborg, M. PY - 2009 DA - 2009// TI - Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis JO - J Biol Chem VL - 284 UR - https://doi.org/10.1074/jbc.M806947200 DO - 10.1074/jbc.M806947200 ID - Pal2009 ER - TY - JOUR AU - Fietz, M. AU - AlSayed, M. AU - Burke, D. AU - Cohen-Pfeffer, J. AU - Cooper, J. D. AU - Dvořáková, L. PY - 2016 DA - 2016// TI - Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): expert recommendations for early detection and laboratory diagnosis JO - Mol Genet Metab VL - 119 UR - https://doi.org/10.1016/j.ymgme.2016.07.011 DO - 10.1016/j.ymgme.2016.07.011 ID - Fietz2016 ER - TY - JOUR AU - Nickel, M. AU - Simonati, A. AU - Jacoby, D. AU - Lezius, S. AU - Kilian, D. AU - Graaf, B. PY - 2018 DA - 2018// TI - Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort JO - Lancet Child Adolesc Health VL - 2 UR - https://doi.org/10.1016/S2352-4642(18)30179-2 DO - 10.1016/S2352-4642(18)30179-2 ID - Nickel2018 ER - TY - JOUR AU - Markham, A. PY - 2017 DA - 2017// TI - Cerliponase Alfa: first global approval JO - Drugs VL - 77 UR - https://doi.org/10.1007/s40265-017-0771-8 DO - 10.1007/s40265-017-0771-8 ID - Markham2017 ER - TY - JOUR AU - Schulz, A. AU - Ajayi, T. AU - Specchio, N. AU - Los, R. E. AU - Gissen, P. AU - Ballon, D. PY - 2018 DA - 2018// TI - Study of Intraventricular Cerliponase Alfa for CLN2 disease JO - N Engl J Med VL - 378 UR - https://doi.org/10.1056/NEJMoa1712649 DO - 10.1056/NEJMoa1712649 ID - Schulz2018 ER - TY - STD TI - Blueprint Genetics: https://blueprintgenetics.com/tests/panels/neurology/beyond-paediatric-epilepsy-panel/. UR - https://blueprintgenetics.com/tests/panels/neurology/beyond-paediatric-epilepsy-panel/ ID - ref19 ER - TY - JOUR AU - Ottman, R. AU - Hirose, S. AU - Jain, S. AU - Lerche, H. AU - Lopes-Cendes, I. AU - Noebels, J. L. PY - 2010 DA - 2010// TI - Genetic testing in the epilepsies--report of the ILAE genetics commission JO - Epilepsia. VL - 51 UR - https://doi.org/10.1111/j.1528-1167.2009.02429.x DO - 10.1111/j.1528-1167.2009.02429.x ID - Ottman2010 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. AU - Bick, D. AU - Das, S. AU - Gastier-Foster, J. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Operto, F. F. AU - Mazza, R. AU - Pastorino, G. M. G. AU - Verrotti, A. AU - Coppola, G. PY - 2019 DA - 2019// TI - Epilepsy and genetic in Rett syndrome: a review JO - Brain Behav VL - 9 UR - https://doi.org/10.1002/brb3.1250 DO - 10.1002/brb3.1250 ID - Operto2019 ER - TY - JOUR AU - Kircher, M. AU - Kelso, J. PY - 2010 DA - 2010// TI - High-throughput DNA sequencing--concepts and limitations JO - Bioessays VL - 32 UR - https://doi.org/10.1002/bies.200900181 DO - 10.1002/bies.200900181 ID - Kircher2010 ER - TY - JOUR AU - Shendure, J. AU - Balasubramanian, S. AU - Church, G. M. AU - Gilbert, W. AU - Rogers, J. AU - Schloss, J. A. AU - Waterston, R. H. PY - 2017 DA - 2017// TI - DNA sequencing at 40: past, present and future JO - Nature VL - 550 UR - https://doi.org/10.1038/nature24286 DO - 10.1038/nature24286 ID - Shendure2017 ER - TY - JOUR AU - Pellacani, S. AU - Dosi, C. AU - Valvo, G. AU - Moro, F. AU - Mero, S. AU - Sicca, F. PY - 2020 DA - 2020// TI - Customized multigene panels in epilepsy: the best things come in small packages JO - Neurogenetics. VL - 21 UR - https://doi.org/10.1007/s10048-019-00598-x DO - 10.1007/s10048-019-00598-x ID - Pellacani2020 ER - TY - JOUR AU - Segal, E. AU - Pedro, H. AU - Valdez-Gonzalez, K. AU - Parisotto, S. AU - Gliksman, F. AU - Thompson, S. PY - 2016 DA - 2016// TI - Diagnostic yield of epilepsy panels in children with medication-refractory epilepsy JO - Pediatr Neurol VL - 64 UR - https://doi.org/10.1016/j.pediatrneurol.2016.06.019 DO - 10.1016/j.pediatrneurol.2016.06.019 ID - Segal2016 ER - TY - JOUR AU - Ream, M. A. AU - Mikati, M. A. PY - 2014 DA - 2014// TI - Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study JO - Epilepsy Behav VL - 37 UR - https://doi.org/10.1016/j.yebeh.2014.06.018 DO - 10.1016/j.yebeh.2014.06.018 ID - Ream2014 ER - TY - JOUR AU - Lindy, A. S. AU - Stosser, M. B. AU - Butler, E. AU - Downtain-Pickersgill, C. AU - Shanmugham, A. AU - Retterer, K. PY - 2018 DA - 2018// TI - Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders JO - Epilepsia. VL - 59 UR - https://doi.org/10.1111/epi.14074 DO - 10.1111/epi.14074 ID - Lindy2018 ER - TY - JOUR AU - Helbig, I. AU - Heinzen, E. L. AU - Mefford, H. C. PY - 2018 DA - 2018// TI - International league against epilepsy genetics commission. Genetic literacy series: primer part 2- paradigm shifts in in epilepsy genetics JO - Epilepsia VL - 59 UR - https://doi.org/10.1111/epi.14193 DO - 10.1111/epi.14193 ID - Helbig2018 ER - TY - JOUR AU - Schulz, A. AU - Miller, N. AU - Mole, S. E. AU - Cohen-Pfeffer, J. L. PY - 2015 DA - 2015// TI - P89–2878: Neuronal ceroid lipofuscinosis-2 (CLN2) natural history and path to diagnosis: International experts’ current experience and recommendations on CLN2 disease, a type of Batten disease, resulting from TPP1 enzyme deficiency JO - Eur. J. Paediatr. Neurol VL - 19 Suppl 1 UR - https://doi.org/10.1016/s1090-3798(15)30402-5 DO - 10.1016/s1090-3798(15)30402-5 ID - Schulz2015 ER - TY - JOUR AU - Pérez-Poyato, M. S. AU - Marfa, M. P. AU - Abizanda, I. F. AU - Rodriguez-Revenga, L. AU - Sánchez, V. C. AU - González, M. J. PY - 2013 DA - 2013// TI - Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients JO - J Child Neurol VL - 28 UR - https://doi.org/10.1177/0883073812448459 DO - 10.1177/0883073812448459 ID - Pérez-Poyato2013 ER - TY - STD TI - Johnson AM, Mandelstam S, Andrews I, Boysen K, Yaplito-Lee J, Fietz M, et al. Neuronal Ceroid Lipofuscinosis type 2: an Australian case series. J Paediatr Child Health. 2020. https://doi.org/10.1111/jpc.14890 [Epub ahead of print]. ID - ref32 ER - TY - JOUR AU - Worgall, S. AU - Kekatpure, M. V. AU - Heier, L. AU - Ballon, D. AU - Dyke, J. P. AU - Shungu, D. PY - 2007 DA - 2007// TI - Neurological deterioration in late infantile neuronal ceroid lipofuscinosis JO - Neurology. VL - 69 UR - https://doi.org/10.1212/01.wnl.0000267885.47092.40 DO - 10.1212/01.wnl.0000267885.47092.40 ID - Worgall2007 ER - TY - JOUR AU - Albert, D. V. AU - Yin, H. AU - Los Reyes, E. C. AU - Vidaurre, J. PY - 2016 DA - 2016// TI - Unique characteristics of the Photoparoxysmal response in patients with neuronal Ceroid Lipofuscinosis type 2: can EEG be a biomarker? JO - J Child Neurol VL - 31 UR - https://doi.org/10.1177/0883073816658659 DO - 10.1177/0883073816658659 ID - Albert2016 ER - TY - JOUR AU - Specchio, N. AU - Bellusci, M. AU - Pietrafusa, N. AU - Trivisano, M. AU - Palma, L. AU - Vigevano, F. PY - 2017 DA - 2017// TI - Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease JO - Epilepsia VL - 58 UR - https://doi.org/10.1111/epi.13820 DO - 10.1111/epi.13820 ID - Specchio2017 ER - TY - JOUR AU - Veneselli, E. AU - Biancheri, R. AU - Buoni, S. AU - Fois, A. PY - 2001 DA - 2001// TI - Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis JO - Brain Dev VL - 23 UR - https://doi.org/10.1016/S0387-7604(01)00231-5 DO - 10.1016/S0387-7604(01)00231-5 ID - Veneselli2001 ER - TY - JOUR AU - Jadav, R. H. AU - Sinha, S. AU - Yasha, T. C. AU - Aravinda, H. AU - Gayathri, N. AU - Rao, S. PY - 2014 DA - 2014// TI - Clinical, electrophysiological, imaging, and Ultrastructural description in 68 patients with neuronal Ceroid Lipofuscinoses and its subtypes JO - Pediatr Neurol VL - 50 UR - https://doi.org/10.1016/j.pediatrneurol.2013.08.008 DO - 10.1016/j.pediatrneurol.2013.08.008 ID - Jadav2014 ER -