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4. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Author

Smith, Katherine R, Dahl, Hans-Henrik M, Canafoglia, Laura, Andermann, Eva, Damiano, John, Morbin, Michela, Bruni, Amalia C, Giaccone, Giorgio, Cossette, Patrick, Saftig, Paul, Grötzinger, Joachim, Schwake, Michael, Andermann, Frederick, Staropoli, John F, Sims, Katherine B, Mole, Sara E, Franceschetti, Silvana, Alexander, Noreen A, Cooper, Jonathan D, Chapman, Harold A, Carpenter, Stirling, Berkovic, Samuel F, and Bahlo, Melanie

Subjects
Clinical Research, Batten Disease, Neurodegenerative, Dementia, Acquired Cognitive Impairment, Aging, Genetics, Neurosciences, Brain Disorders, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Animals, Anterior Horn Cells, Case-Control Studies, Cathepsin F, Chromosome Mapping, Consanguinity, DNA Mutational Analysis, Exome, Female, Genetic Association Studies, Humans, Lod Score, Mice, Mice, Knockout, Middle Aged, Models, Molecular, Mutation, Missense, Neuronal Ceroid-Lipofuscinoses, Pedigree, Protein Structure, Secondary, Protein Structure, Tertiary, Sequence Analysis, RNA, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with dementia and motor features (Type B) is unknown. We performed genome-wide linkage mapping of two families with recessive Type B Kufs disease and identified a single region on chromosome 11 to which both families showed linkage. Exome sequencing of five samples from the two families identified homozygous and compound heterozygous missense mutations in CTSF within this linkage region. We subsequently sequenced CTSF in 22 unrelated individuals with suspected recessive Kufs disease, and identified an additional patient with compound heterozygous mutations. CTSF encodes cathepsin F, a lysosomal cysteine protease, dysfunction of which is a highly plausible candidate mechanism for a storage disorder like ceroid lipofuscinosis. In silico modeling suggested the missense mutations would alter protein structure and function. Moreover, re-examination of a previously published mouse knockout of Ctsf shows that it recapitulates the light and electron-microscopic pathological features of Kufs disease. Although CTSF mutations account for a minority of cases of type B Kufs, CTSF screening should be considered in cases with early-onset dementia and may avoid the need for invasive biopsies.

Published
2013

10. Recognition and Epileptology of Protracted CLN3 Disease

Author

Cameron, Jillian M., primary, Damiano, John A., additional, Grinton, Bronwyn, additional, Carney, Patrick W., additional, McKelvie, Penny, additional, Silbert, Peter, additional, Lawn, Nicholas, additional, Scheffer, Ingrid E., additional, Oliver, Karen L., additional, Hildebrand, Michael S., additional, and Berkovic, Samuel F., additional

Published
2023
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11. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Author

Hildebrand, Michael S., Harvey, A. Simon, Malone, Stephen, Damiano, John A., Do, Hongdo, Ye, Zimeng, McQuillan, Lara, Maixner, Wirginia, Kalnins, Renate, Nolan, Bernadette, Wood, Martin, Ozturk, Ezgi, Jones, Nigel C., Gillies, Greta, Pope, Kate, Lockhart, Paul J., Dobrovic, Alexander, Leventer, Richard J., Scheffer, Ingrid E., and Berkovic, Samuel F.

Published
2018
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12. Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Author

Hildebrand, Michael S, Harvey, A Simon, Malone, Stephen, Damiano, John A, Do, Hongdo, Ye, Zimeng, McQuillan, Lara, Maixner, Wirginia, Kalnins, Renate, Nolan, Bernadette, Wood, Martin, Ozturk, Ezgi, Jones, Nigel C, Gillies, Greta, Pope, Kate, Lockhart, Paul J, Dobrovic, Alexander, Leventer, Richard J, Scheffer, Ingrid E, and Berkovic, Samuel F

Subjects
Uncategorized
Abstract

Objective: To determine whether the GNAQ R183Q mutation is present in the forme fruste cases of Sturge-Weber syndrome (SWS) to establish a definitive molecular diagnosis. Methods: We used sensitive droplet digital PCR (ddPCR) to detect and quantify the GNAQ mutation in tissues from epilepsy surgery in 4 patients with leptomeningeal angiomatosis; none had ocular or cutaneous manifestations. Results: Low levels of the GNAQ mutation were detected in the brain tissue of all 4 cases - ranging from 0.42% to 7.1% frequency - but not in blood-derived DNA. Molecular evaluation confirmed the diagnosis in 1 case in which the radiologic and pathologic data were equivocal. Conclusions: We detected the mutation at low levels, consistent with mosaicism in the brain or skin (1.0%-18.1%) of classic cases. Our data confirm that the forme fruste is part of the spectrum of SWS, with the same molecular mechanism as the classic disease and that ddPCR is helpful where conventional diagnosis is uncertain.

Published
2023
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16. Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy

Author

Gozzelino, Luca, primary, Kochlamazashvili, Gaga, additional, Baldassari, Sara, additional, Mackintosh, Albert Ian, additional, Licchetta, Laura, additional, Iovino, Emanuela, additional, Liu, Yu Chi, additional, Bennett, Caitlin A, additional, Bennett, Mark F, additional, Damiano, John A, additional, Zsurka, Gábor, additional, Marconi, Caterina, additional, Giangregorio, Tania, additional, Magini, Pamela, additional, Kuijpers, Marijn, additional, Maritzen, Tanja, additional, Norata, Giuseppe Danilo, additional, Baulac, Stéphanie, additional, Canafoglia, Laura, additional, Seri, Marco, additional, Tinuper, Paolo, additional, Scheffer, Ingrid E, additional, Bahlo, Melanie, additional, Berkovic, Samuel F, additional, Hildebrand, Michael S, additional, Kunz, Wolfram S, additional, Giordano, Lucio, additional, Bisulli, Francesca, additional, Martini, Miriam, additional, Haucke, Volker, additional, Hirsch, Emilio, additional, and Pippucci, Tommaso, additional

Published
2022
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17. Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Author

Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F, Banasik, Karina, Grove, Jakob, Albiñana, Clara, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders D, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, Feenstra, Bjarke, Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F, Banasik, Karina, Grove, Jakob, Albiñana, Clara, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders D, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, and Feenstra, Bjarke

Abstract

Febrile seizures represent the most common type of pathological brain activity in young children and are influenced by genetic, environmental and developmental factors. In a minority of cases, febrile seizures precede later development of epilepsy. We conducted a genome-wide association study of febrile seizures in 7635 cases and 83 966 controls identifying and replicating seven new loci, all with P < 5 × 10-10. Variants at two loci were functionally related to altered expression of the fever response genes PTGER3 and IL10, and four other loci harboured genes (BSN, ERC2, GABRG2, HERC1) influencing neuronal excitability by regulating neurotransmitter release and binding, vesicular transport or membrane trafficking at the synapse. Four previously reported loci (SCN1A, SCN2A, ANO3 and 12q21.33) were all confirmed. Collectively, the seven novel and four previously reported loci explained 2.8% of the variance in liability to febrile seizures, and the single nucleotide polymorphism heritability based on all common autosomal single nucleotide polymorphisms was 10.8%. GABRG2, SCN1A and SCN2A are well-established epilepsy genes and, overall, we found positive genetic correlations with epilepsies (rg = 0.39, P = 1.68 × 10-4). Further, we found that higher polygenic risk scores for febrile seizures were associated with epilepsy and with history of hospital admission for febrile seizures. Finally, we found that polygenic risk of febrile seizures was lower in febrile seizure patients with neuropsychiatric disease compared to febrile seizure patients in a general population sample. In conclusion, this largest genetic investigation of febrile seizures to date implicates central fever response genes as well as genes affecting neuronal excitability, including several known epilepsy genes. Further functional and genetic studies based on these findings will provide important insights into the complex pathophysiological processes of seizures with and without fever.

Published
2022

18. Genetic epilepsy with febrile seizures plus: Refining the spectrum

Author

Zhang, Yue-Hua, Burgess, Rosemary, Malone, Jodie P., Glubb, Georgie C., Helbig, Katherine L., Vadlamudi, Lata, Kivity, Sara, Afawi, Zaid, Bleasel, Andrew, Grattan-Smith, Padraic, Grinton, Bronwyn E., Bellows, Susannah T., Vears, Danya F., Damiano, John A., Goldberg-Stern, Hadassa, Korczyn, Amos D., Dibbens, Leanne M., Ruzzo, Elizabeth K., Hildebrand, Michael S., Berkovic, Samuel F., and Scheffer, Ingrid E.

Published
2017
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21. Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

Author

Green, Timothy E, primary, Motelow, Joshua E, additional, Bennett, Mark F, additional, Ye, Zimeng, additional, Bennett, Caitlin A, additional, Griffin, Nicole G, additional, Damiano, John A, additional, Leventer, Richard J, additional, Freeman, Jeremy L, additional, Harvey, A Simon, additional, Lockhart, Paul J, additional, Sadleir, Lynette G, additional, Boys, Amber, additional, Scheffer, Ingrid E, additional, Major, Heather, additional, Darbro, Benjamin W, additional, Bahlo, Melanie, additional, Goldstein, David B, additional, Kerrigan, John F, additional, Heinzen, Erin L, additional, Berkovic, Samuel F, additional, and Hildebrand, Michael S, additional

Published
2022
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22. Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

Author

Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F., Banasik, Karina, Grove, Jakob, Climent, Clara A, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, and Feenstra, Bjarke

Published
2022

23. Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Author

Skotte, Line, primary, Fadista, João, additional, Bybjerg-Grauholm, Jonas, additional, Appadurai, Vivek, additional, Hildebrand, Michael S, additional, Hansen, Thomas F, additional, Banasik, Karina, additional, Grove, Jakob, additional, Albiñana, Clara, additional, Geller, Frank, additional, Bjurström, Carmen F, additional, Vilhjálmsson, Bjarni J, additional, Coleman, Matthew, additional, Damiano, John A, additional, Burgess, Rosemary, additional, Scheffer, Ingrid E, additional, Pedersen, Ole Birger Vesterager, additional, Erikstrup, Christian, additional, Westergaard, David, additional, Nielsen, Kaspar René, additional, Sørensen, Erik, additional, Bruun, Mie Topholm, additional, Liu, Xueping, additional, Hjalgrim, Henrik, additional, Pers, Tune H, additional, Mortensen, Preben Bo, additional, Mors, Ole, additional, Nordentoft, Merete, additional, Dreier, Julie W, additional, Børglum, Anders D, additional, Christensen, Jakob, additional, Hougaard, David M, additional, Buil, Alfonso, additional, Hviid, Anders, additional, Melbye, Mads, additional, Ullum, Henrik, additional, Berkovic, Samuel F, additional, Werge, Thomas, additional, and Feenstra, Bjarke, additional

Published
2022
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24. Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

Author

Damiano, John A., Afawi, Zaid, Bahlo, Melanie, Mauermann, Monika, Misk, Adel, Arsov, Todor, Oliver, Karen L., Dahl, Hans-Henrik M., Shearer, A. Eliot, Smith, Richard J.H., Hall, Nathan E., Mahmood, Khalid, Leventer, Richard J., Scheffer, Ingrid E., Muona, Mikko, Lehesjoki, Anna-Elina, Korczyn, Amos D., Herrmann, Harald, Berkovic, Samuel F., and Hildebrand, Michael S.

Published
2015
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27. Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Author

Gozzelino, Luca, Kochlamazashvili, Gaga, Baldassari, Sara, Mackintosh, Albert Ian, Licchetta, Laura, Iovino, Emanuela, Liu, Yu Chi, Bennett, Caitlin A, Bennett, Mark F, Damiano, John A, Zsurka, Gábor, Marconi, Caterina, Giangregorio, Tania, Magini, Pamela, Kuijpers, Marijn, Maritzen, Tanja, Norata, Giuseppe Danilo, Baulac, Stéphanie, Canafoglia, Laura, and Seri, Marco

Abstract

Epilepsy is one of the most frequent neurological diseases, with focal epilepsy accounting for the largest number of cases. The genetic alterations involved in focal epilepsy are far from being fully elucidated. Here, we show that defective lipid signalling caused by heterozygous ultra-rare variants in PIK3C2B, encoding for the class II phosphatidylinositol 3-kinase PI3K-C2β, underlie focal epilepsy in humans. We demonstrate that patients' variants act as loss-of-function alleles, leading to impaired synthesis of the rare signalling lipid phosphatidylinositol 3,4-bisphosphate, resulting in mTORC1 hyperactivation. In vivo, mutant Pik3c2b alleles caused dose-dependent neuronal hyperexcitability and increased seizure susceptibility, indicating haploinsufficiency as a key driver of disease. Moreover, acute mTORC1 inhibition in mutant mice prevented experimentally induced seizures, providing a potential therapeutic option for a selective group of patients with focal epilepsy. Our findings reveal an unexpected role for class II PI3K-mediated lipid signalling in regulating mTORC1-dependent neuronal excitability in mice and humans. [ABSTRACT FROM AUTHOR]

Published
2022
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28. Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Author

Courage, Carolina, primary, Oliver, Karen L., additional, Park, Eon Joo, additional, Cameron, Jillian M., additional, Grabińska, Kariona A., additional, Muona, Mikko, additional, Canafoglia, Laura, additional, Gambardella, Antonio, additional, Said, Edith, additional, Afawi, Zaid, additional, Baykan, Betul, additional, Brandt, Christian, additional, di Bonaventura, Carlo, additional, Chew, Hui Bein, additional, Criscuolo, Chiara, additional, Dibbens, Leanne M., additional, Castellotti, Barbara, additional, Riguzzi, Patrizia, additional, Labate, Angelo, additional, Filla, Alessandro, additional, Giallonardo, Anna T., additional, Berecki, Geza, additional, Jackson, Christopher B., additional, Joensuu, Tarja, additional, Damiano, John A., additional, Kivity, Sara, additional, Korczyn, Amos, additional, Palotie, Aarno, additional, Striano, Pasquale, additional, Uccellini, Davide, additional, Giuliano, Loretta, additional, Andermann, Eva, additional, Scheffer, Ingrid E., additional, Michelucci, Roberto, additional, Bahlo, Melanie, additional, Franceschetti, Silvana, additional, Sessa, William C., additional, Berkovic, Samuel F., additional, and Lehesjoki, Anna-Elina, additional

Published
2021
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29. SOI CMOS implementation of a multirate PSK demodulator for space communications

Author

Yuce, Mehmet Rasit, Liu, Wentai, Damiano, John, Bharath, Bhaskar, Franzon, Paul D., and Dogan, Numan S.

Subjects
Silicon-on-isolator -- Methods, Detector circuits (Telecommunications) -- Design and construction, Phase modulation -- Methods, Business, Computers and office automation industries, Electronics, Electronics and electrical industries
Abstract

A low-power phase-shift keying demodulator integrated circuit (IC) has been implemented using silicon-on-insulator CMOS technology for deep space and satellite applications. The demodulator employs double differential detection to increase its robustness to the Doppler shift caused by the movement of the space vehicle and sampling technique with 1-bit analog-to-digital converter (ADC) at the front to reduce the complexity and power dissipation. In particular, digital decimation is used after sampling to achieve a low power implementation of multirate transmission. Operating at ultra-high-frequency (435 MHz), the receiver system supports a wide range of data rates (0.1-100 Kbps). From test results, the power consumption of the demodulator circuit including the 1-bit ADC is below 1 mW for data rates up to 100 Kbps. Index Terms--Differential detection, multirate, phase-shift keying (PSK), sampling, space communications, symbol timing circuit.

Published
2007

30. Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Author

Ye, Zimeng, primary, Chatterton, Zac, additional, Pflueger, Jahnvi, additional, Damiano, John A, additional, McQuillan, Lara, additional, Simon Harvey, A, additional, Malone, Stephen, additional, Do, Hongdo, additional, Maixner, Wirginia, additional, Schneider, Amy, additional, Nolan, Bernadette, additional, Wood, Martin, additional, Lee, Wei Shern, additional, Gillies, Greta, additional, Pope, Kate, additional, Wilson, Michael, additional, Lockhart, Paul J, additional, Dobrovic, Alexander, additional, Scheffer, Ingrid E, additional, Bahlo, Melanie, additional, Leventer, Richard J, additional, Lister, Ryan, additional, Berkovic, Samuel F, additional, and Hildebrand, Michael S, additional

Published
2021
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31. Genome-wide association study of febrile seizures identifies seven new loci implicating fever response and neuronal excitability genes

Author

Skotte, Line, primary, Fadista, João, additional, Bybjerg-Grauholm, Jonas, additional, Appadurai, Vivek, additional, Hildebrand, Michael S, additional, Hansen, Thomas F, additional, Banasik, Karina, additional, Grove, Jakob, additional, Climent, Clara A, additional, Geller, Frank, additional, Bjurström, Carmen F, additional, Vilhjálmsson, Bjarni J, additional, Coleman, Matthew, additional, Damiano, John A, additional, Burgess, Rosemary, additional, Scheffer, Ingrid E, additional, Vesterager Pedersen, Ole Birger, additional, Erikstrup, Christian, additional, Westergaard, David, additional, René Nielsen, Kaspar, additional, Sørensen, Erik, additional, Bruun, Mie Topholm, additional, Liu, Xueping, additional, Hjalgrim, Henrik, additional, Pers, Tune H, additional, Mortensen, Preben Bo, additional, Mors, Ole, additional, Nordentoft, Merete, additional, Dreier, Julie W, additional, Børglum, Anders, additional, Christensen, Jakob, additional, Hougaard, David M, additional, Buil, Alfonso, additional, Hviid, Anders, additional, Melbye, Mads, additional, Ullum, Henrik, additional, Berkovic, Samuel F, additional, Werge, Thomas, additional, and Feenstra, Bjarke, additional

Published
2020
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38. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Author

Tsai, Meng-Han, primary, Muir, Alison M., additional, Wang, Won-Jing, additional, Kang, Yi-Ning, additional, Yang, Kun-Chuan, additional, Chao, Nian-Hsin, additional, Wu, Mei-Feng, additional, Chang, Ying-Chao, additional, Porter, Brenda E., additional, Jansen, Laura A., additional, Sebire, Guillaume, additional, Deconinck, Nicolas, additional, Fan, Wen-Lang, additional, Su, Shih-Chi, additional, Chung, Wen-Hung, additional, Almanza Fuerte, Edith P., additional, Mehaffey, Michele G., additional, Ng, Ching-Ching, additional, Chan, Chung-Kin, additional, Lim, Kheng-Seang, additional, Leventer, Richard J., additional, Lockhart, Paul J., additional, Riney, Kate, additional, Damiano, John A., additional, Hildebrand, Michael S., additional, Mirzaa, Ghayda M., additional, Dobyns, William B., additional, Berkovic, Samuel F., additional, Scheffer, Ingrid E., additional, Tsai, Jin-Wu, additional, and Mefford, Heather C., additional

Published
2020
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39. SCN1A Variants in vaccine‐related febrile seizures: A prospective study

Author

Damiano, John A., primary, Deng, Lucy, additional, Li, Wenhui, additional, Burgess, Rosemary, additional, Schneider, Amy L., additional, Crawford, Nigel W., additional, Buttery, Jim, additional, Gold, Michael, additional, Richmond, Peter, additional, Macartney, Kristine K., additional, Hildebrand, Michael S., additional, Scheffer, Ingrid E., additional, Wood, Nicholas, additional, and Berkovic, Samuel F., additional

Published
2019
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42. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

Author

Ware, Tyson L., primary, Huskins, Shannon R., additional, Grinton, Bronwyn E., additional, Liu, Yu‐Chi, additional, Bennett, Mark F., additional, Harvey, Michael, additional, McMahon, Jacinta, additional, Andreopoulos‐Malikotsinas, Danae, additional, Bahlo, Melanie, additional, Howell, Katherine B., additional, Hildebrand, Michael S., additional, Damiano, John A., additional, Rosenfeld, Alexander, additional, Mackay, Mark T., additional, Mandelstam, Simone, additional, Leventer, Richard J., additional, Harvey, A. Simon, additional, Freeman, Jeremy L., additional, Scheffer, Ingrid E., additional, Jones, Dean L., additional, and Berkovic, Samuel F., additional

Published
2019
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43. Cryo‐Electron Microscopy: Cryo‐EM‐On‐a‐Chip: Custom‐Designed Substrates for the 3D Analysis of Macromolecules (Small 21/2019)

Author

Alden, Nick A., primary, Varano, A. Cameron, additional, Dearnaley, William J., additional, Solares, Maria J., additional, Luqiu, William Y., additional, Liang, Yanping, additional, Sheng, Zhi, additional, McDonald, Sarah M., additional, Damiano, John, additional, McConnell, Jennifer, additional, Dukes, Madeline J., additional, and Kelly, Deborah F., additional

Published
2019
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44. Cryo‐EM‐On‐a‐Chip: Custom‐Designed Substrates for the 3D Analysis of Macromolecules

Author

Alden, Nick A., primary, Varano, A. Cameron, additional, Dearnaley, William J., additional, Solares, Maria J., additional, Luqiu, William Y., additional, Liang, Yanping, additional, Sheng, Zhi, additional, McDonald, Sarah M., additional, Damiano, John, additional, McConnell, Jennifer, additional, Dukes, Madeline J., additional, and Kelly, Deborah F., additional

Published
2019
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45. Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features

Author

Berkovic, Samuel F, primary, Oliver, Karen L, additional, Canafoglia, Laura, additional, Krieger, Penina, additional, Damiano, John A, additional, Hildebrand, Michael S, additional, Morbin, Michela, additional, Vears, Danya F, additional, Sofia, Vito, additional, Giuliano, Loretta, additional, Garavaglia, Barbara, additional, Simonati, Alessandro, additional, Santorelli, Filippo M, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Belcastro, Vincenzo, additional, Castellotti, Barbara, additional, Ozkara, Cigdem, additional, Zeman, Adam, additional, Rankin, Julia, additional, Mole, Sara E, additional, Aguglia, Umberto, additional, Farrell, Michael, additional, Rajagopalan, Sulekha, additional, McDougall, Alan, additional, Brammah, Susan, additional, Andermann, Frederick, additional, Andermann, Eva, additional, Dahl, Hans-Henrik M, additional, Franceschetti, Silvana, additional, and Carpenter, Stirling, additional

Published
2018
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47. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Author

Berkovic, Samuel F, Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E. ANCL Gene Discovery Consortium […, BISULLI, FRANCESCA, LICCHETTA, LAURA, TINUPER, PAOLO, Berkovic, Samuel F, Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E. ANCL Gene Discovery Consortium […, Bisulli, Francesca, Licchetta, Laura, Tinuper, Paolo, ], . ., and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
Adult, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Pathology, Adolescent, Neurodegeneration with brain iron accumulation, DNAJC5, PHENOTYPES, Disease, Article, Lipofuscin, Adult neuronal ceroid lipofuscinosis, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Humans, Medicine, Age of Onset, Diagnostic Errors, Medical diagnosis, Kufs disease, JUVENILE, EPILEPSY, Neurons, SPECTRUM, business.industry, MUTATIONS, Medicine (all), NCL, CLN6, medicine.disease, DOMINANT INHERITANCE, DEFICIENCY, 030104 developmental biology, Neurology (clinical), Alzheimer's disease, Age of onset, business, 030217 neurology & neurosurgery
Abstract

Objective: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.Methods: Through establishment of an international consortium we pooled 47 unsolved cases regarded by referring centers as ANCL. Clinical and neuropathologic experts within the Consortium established diagnostic criteria for ANCL based on the literature to assess each case. A panel of 3 neuropathologists independently reviewed source pathologic data. Cases were given a final clinicopathologic classification of definite ANCL, probable ANCL, possible ANCL, or not ANCL.Results: Of the 47 cases, only 16 fulfilled the Consortium's criteria of ANCL (5 definite, 2 probable, 9 possible). Definitive alternate diagnoses were made in 10, including Huntington disease, early-onset Alzheimer disease, Niemann-Pick disease, neuroserpinopathy, prion disease, and neurodegeneration with brain iron accumulation. Six cases had features suggesting an alternate diagnosis, but no specific condition was identified; in 15, the data were inadequate for classification. Misinterpretation of normal lipofuscin as abnormal storage material was the commonest cause of misdiagnosis.Conclusions: Diagnosis of ANCL remains challenging; expert pathologic analysis and recent molecular genetic advances revealed misdiagnoses in >1/3 of cases. We now have a refined group of cases that will facilitate identification of new causative genes.

Published
2016

49. SCN1A Variants in vaccine-related febrile seizures: A prospective study.

Author

Damiano, John A., Deng, Lucy, Li, Wenhui, Burgess, Rosemary, Schneider, Amy L., Crawford, Nigel W., Buttery, Jim, Gold, Michael, Richmond, Peter, Macartney, Kristine K., Hildebrand, Michael S., Scheffer, Ingrid E., Wood, Nicholas, and Berkovic, Samuel F.

Subjects
*FEBRILE seizures, *SODIUM channels, *LONGITUDINAL method, *CHILDREN'S hospitals, *SEIZURES (Medicine), *LENNOX-Gastaut syndrome, *BRUGADA syndrome, *RESEARCH, *VACCINES, *GENETIC mutation, *RESEARCH methodology, *CASE-control method, *EVALUATION research, *MEDICAL cooperation, *COMPARATIVE studies, *MEMBRANE transport proteins, *DISEASE susceptibility
Abstract

Objective: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile seizures, and rare pathogenic variants in SCN1A cause the severe developmental and epileptic encephalopathy Dravet syndrome. Following vaccination, febrile seizures may raise the specter of poor outcome and inappropriately implicate vaccination as the cause. We aimed to determine the prevalence of SCN1A variants in children having their first febrile seizure either proximal to vaccination or unrelated to vaccination compared to controls.Methods: We performed SCN1A sequencing, blind to clinical category, in a prospective cohort of children presenting with their first febrile seizure as vaccine proximate (n = 69) or as non-vaccine proximate (n = 75), and children with no history of seizures (n = 90) recruited in Australian pediatric hospitals.Results: We detected 2 pathogenic variants in vaccine-proximate cases (p.R568X and p.W932R), both of whom developed Dravet syndrome, and 1 in a non-vaccine-proximate case (p.V947L) who had febrile seizures plus from 9 months. All had generalized tonic-clonic seizures lasting >15 minutes. We also found enrichment of a reported risk allele, rs6432860-T, in children with febrile seizures compared to controls (odds ratio = 1.91, 95% confidence interval = 1.31-2.81).Interpretation: Pathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures. As early diagnosis of Dravet syndrome is essential for optimal management and outcome, SCN1A sequencing in infants with prolonged febrile seizures, proximate to vaccination, should become routine. ANN NEUROL 2020;87:281-288. [ABSTRACT FROM AUTHOR]

Published
2020
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