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1. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K., SPARK Consortium, Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., Michael, R. J., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, C., Peeters, H., Gecz, J., and Xia, K.

Subjects
0301 basic medicine, Male, CCCTC-Binding Factor, Transcription Factor, Basic Helix-Loop-Helix Transcription Factor, DNA Mutational Analysis, General Physics and Astronomy, RNA-Binding Protein, Heterogeneous-Nuclear Ribonucleoprotein U, VARIANTS, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Neurodevelopmental Disorder, Basic Helix-Loop-Helix Transcription Factors, SPARK Consortium, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, lcsh:Science, GABRG2, Genetics, Mutation, Multidisciplinary, biology, Neurodevelopmental disorders, RNA-Binding Proteins, High-Throughput Nucleotide Sequencing, Autism spectrum disorders, Multidisciplinary Sciences, DNA-Binding Proteins, Science & Technology - Other Topics, Female, Case-Control Studie, Engineering sciences. Technology, Human, Science, DNA-Binding Protein, Genetic Association Studie, COPY-NUMBER VARIATION, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, KCNQ3 Potassium Channel, DNA Mutational Analysi, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, AUTISM, Gene, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, DISABILITY, Prevention, Case-control study, General Chemistry, Repressor Protein, medicine.disease, FRAMEWORK, Repressor Proteins, DE-NOVO MUTATION, 030104 developmental biology, CTCF, Neurodevelopmental Disorders, Case-Control Studies, biology.protein, Next-generation sequencing, Autism, lcsh:Q, Cohort Studie, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF, For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Published
2020

2. Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life

Author

Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Lucibello, Simona, Marini, C., Sibilia, V., Mei, D., Darra, F., Offredi, F., Fontana, Elisa, Specchio, N., Cappelletti, S., Granata, T., Ragona, F., Patrini, Massimiliano, Baglietto, M. G., Prato, G., Ferrari, A., Vigevano, F., Mercuri, Eugenio Maria, Bernardina, B. D., Guerrini, R., Dravet, C., Guzzetta, F., Battaglia D. (ORCID:0000-0003-0491-4021), Chieffo D., Lucibello S., Fontana E., Patrini M., Mercuri E. (ORCID:0000-0002-9851-5365), Battaglia, Domenica Immacolata, Chieffo, Daniela Pia Rosaria, Lucibello, Simona, Marini, C., Sibilia, V., Mei, D., Darra, F., Offredi, F., Fontana, Elisa, Specchio, N., Cappelletti, S., Granata, T., Ragona, F., Patrini, Massimiliano, Baglietto, M. G., Prato, G., Ferrari, A., Vigevano, F., Mercuri, Eugenio Maria, Bernardina, B. D., Guerrini, R., Dravet, C., Guzzetta, F., Battaglia D. (ORCID:0000-0003-0491-4021), Chieffo D., Lucibello S., Fontana E., Patrini M., and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

The objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of patients with Dravet syndrome (DS). Thirty-four patients from seven Italian tertiary pediatric neurology centers were enrolled in the study. All patients were examined for the SCN1A gene mutation and prospectively assessed from the first years of life with repeated full clinical observations including neurological and developmental examinations. Subjects were found to follow three neurodevelopmental trajectories. In the first group (16 patients), an initial and usually mild decline was observed between the second and the third year of life, specifically concerning visuomotor abilities, later progressing towards global involvement of all abilities. The second group (12 patients) showed an earlier onset of global developmental impairment, progressing towards a generally worse outcome. The third group of only two patients ended up with a normal neurodevelopmental quotient, but with behavioral and linguistic problems. The remaining four patients were not classifiable due to a lack of critical assessments just before developmental decline. The neurodevelopmental trajectories described in this study suggest a differential contribution of neurobiological and genetic factors. The profile of the first group, which included the largest fraction of patients, suggests that in the initial phase of the disease, visuomotor defects might play a major role in determining developmental decline. Early diagnosis of milder cases with initial visuomotor impairment may therefore provide new tools for a more accurate habilitation strategy.

Published
2021

3. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Author

Wang, T., Hoekzema, K., Vecchio, Davide., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, Giuseppe, Elia, Maurizio., Greco, Donatella, Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, Corrado, Peeters, H., Gecz, J., and Xia, K.

Published
2020

4. The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations

Author

Muglia, P., Filosi, M., Ros, Da, Kam-Thong, T., Nardocci, F., Trabetti, E., Ratti, E., Rizzini, P., Zuddas, A., Bernardina, B. D., Domenici, Enrico, Alibrio, G., Anchisi, L., Andruccioli, M., Benvenuto, A., Battistella, P. A., Boscaini, F., Bravaccio, C., Ceppi, E., Cosentino, D., Curatolo, P., De Giacomo, A., Di Vita, G., Elia, M., Gitti, F., Grittani, S., Lamanna, A. L., Mani, E., Manzi, B., Margari, L., Masi, G., Molteni, M., Pascotto, A., Parmeggiani, A., Pignatti, P. F., Piroddi, T., Prandini, P., Russo, S., Scifo, R., Tancredi, R., Tiberti, A., Zoccante, L., Pierandrea Muglia, Michele Filosi, Lucio Da Ros, Tony Kam-Thong, Franco Nardocci, Elisabetta Trabetti, Emiliangelo Ratti, Paolo Rizzini, Alessandro Zuddas, Bernardo Dalla Bernardina, Enrico Domenici,..Antonia Parmeggiani, Muglia, Pierandrea, Filosi, Michele, Da Ros, Lucio, Kam-Thong, Tony, Nardocci, Franco, Trabetti, Elisabetta, Ratti, Emiliangelo, Rizzini, Paolo, Zuddas, Alessandro, Bernardina, Bernardo Dalla, Domenici, Enrico, Alibrio, Giovanni, Anchisi, Laura, Andruccioli, Milena, Benvenuto, Arianna, Battistella, Pier Antonio, Boscaini, Flavio, Bravaccio, Carmela, Ceppi, Elisa, Cosentino, Diego, Curatolo, Paolo, De Giacomo, Andrea, Di Vita, Giuseppa, Elia, Massimo, Gitti, Filippo, Grittani, Serenella, Lamanna, Anna Linda, Mani, Elisa, Manzi, Barbara, Margari, Lucia, Masi, Gabriele, Molteni, Massimo, Pascotto, Antonio, Parmeggiani, Antonia, Pignatti, Pier Franco, Piroddi, Tiziana, Prandini, Paola, Russo, Sebastiano, Scifo, Renato, Tancredi, Raffaella, Tiberti, Alessandra, and Zoccante, Leonardo

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Adolescent, lcsh:RC435-571, Autism Spectrum Disorder, Medical Records, Autism Spectrum disorders, 03 medical and health sciences, Study Protocol, 0302 clinical medicine, Genetic, Language assessment, lcsh:Psychiatry, medicine, Pervasive developmental disorder, Child and adolescent psychiatry, Genetics, Humans, Biorepository, Asperger Syndrome, Child, Biomarkers, Wechsler Intelligence Scale for Children, Biological Specimen Banks, business.industry, Leiter International Performance Scale, Medical record, Autism Spectrum disorders, Biomarkers, Biorepository, Genetics, Biomarker, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, Psychiatry and Mental health, 030104 developmental biology, Databases as Topic, Italy, Psychiatry and Mental Health, Child Development Disorders, Pervasive, Child, Preschool, Autism, Health Resources, Female, business, 030217 neurology & neurosurgery, Clinical psychology
Abstract

BackgroundA substantial genetic component accounts for Autism Spectrum Disorders (ASD) aetiology, with some rare and common genetic risk factors recently identified. Large collections of DNAs from thoroughly characterized ASD families are an essential step to confirm genetic risk factors, identify new variants and investigate genotype-phenotype correlations. The Italian Autism Network aimed at constituting a clinical database and a biorepository of samples derived from ASD subjects and first-degree relatives extensively and consistently characterized by child psychiatry centers in Italy.MethodsThe study was approved by the ethical committee of the University of Verona, the coordinating site, and by the local ethical committees of each recruiting site. Certified staff was specifically trained at each site for the overall study conduct, for clinical protocol administration and handling of biological material. A centralized database was developed to collect clinical assessment and medical records from each recruiting site. Children were eligible for recruitment based on the following inclusion criteria: age 4–18 years, at least one parent or legal guardian giving voluntary written consent, meeting DSM-IV criteria for Autistic Disorder or Asperger’s Disorder or Pervasive Developmental Disorder NOS. Affected individuals were assessed by full psychiatric, neurological and physical examination, evaluation with ADI-R and ADOS scales, cognitive assessment with Wechsler Intelligence Scale for Children or Preschool and Primary, Leiter International Performance Scale or Griffiths Mental Developmental Scale. Additional evaluations included language assessment, the Krug Asperger’s Disorder Index, and instrumental examination such as EEG and structural MRI. DNA, RNA and plasma were collected from eligible individuals and relatives. A central laboratory was established to host the biorepository, perform DNA and RNA extraction and lymphocytes immortalisation. DiscussionThe study has led to an extensive collection of biological samples associated with standardised clinical assessments from a network of expert clinicians and psychologists. Eighteen sites have received ADI/ADOS training, thirteen of which have been actively recruiting. The clinical database currently includes information on 812 individuals from 249 families, and the biorepository has samples for 98% of the subjects. This effort has generated a highly valuable resource for conducting clinical and genetic research of ASD, amenable to further expansion.

Published
2018

5. Experience with immunomodulatory treatments in Rasmussen's encephalitis

Author

Granata, T., primary, Fusco, L., additional, Gobbi, G., additional, Freri, E., additional, Ragona, F., additional, Broggi, G., additional, Mantegazza, R., additional, Giordano, L., additional, Villani, F., additional, Capovilla, G., additional, Vigevano, F., additional, Bernardina, B. D., additional, Spreafico, R., additional, and Antozzi, C., additional

Published
2003
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8. Neonatal screening for biotinidase deficiency in north eastern Italy.

Author

Burlina, A., Sherwood, W., Marchioro, M., Bernardina, B., Gaburro, D., Burlina, A B, Sherwood, W G, Marchioro, M V, and Bernardina, B D

Abstract

Biotinidase deficiency satisfies all the criteria for incorporation into neonatal mass screening programmes for inborn errors of metabolism. We report our preliminary experiences with screening of 24,300 newborns during a 6 month-period when 1 infant with biotinidase deficiency was detected. On the basis of these results, this disorder appears to be as common as other well known metabolic disorders for which mass screening is available. [ABSTRACT FROM AUTHOR]

Published
1988
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9. Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations

Author

Davide Mei, Carla Marini, Giuseppe Capovilla, Laura Siri, Maria Margherita Mancardi, Francesca Darra, Francesca Ragona, Francesca Longaretti, Maurizio Elia, Roberta Biancheri, Federico Zara, Charlotte Dravet, Fabio Tortora, Nicola Specchio, Giuseppe Gobbi, Antonino Romeo, Lucio Giordano, Elena Gennaro, Tiziana Granata, Renzo Guerrini, Francesca Beccaria, Carlo Minetti, Federico Vigevano, Andrea Rossi, Roberto Gaggero, Salvatore Striano, Bernardo Dalla Bernardina, Pasquale Striano, Roberta Paravidino, Francesca Madia, Striano, P., Mancardi, M. M., Biancheri, R., Madia, F., Gennaro, E., Paravidino, R., Beccaria, F., Capovilla, G., Bernardina, B. D., Darra, F., Elia, M., Giordano, L., Gobbi, G., Granata, T., Ragona, F., Guerrini, R., Marini, C., Mei, D., Longaretti, F., Romeo, A., Siri, L., Specchio, N., Vigevano, F., Striano, Salvatore, Tortora, F., Rossi, A., Minetti, C., Dravet, C., Gaggero, R., Zara, F., Striano, P, Mancardi, Mm, Biancheri, R, Madia, F, Gennaro, E, Paravidino, R, Beccaria, F, Capovilla, G, DALLA BERNARDINA, B, Darra, F, Elia, M, Giordano, L, Gobbi, G, Granata, T, Ragona, F, Guerrini, R, Marini, C, Mei, D, Longaretti, F, Romeo, A, Siri, L, Specchio, N, Vigevano, F, Tortora, F, Rossi, A, Minetti, C, Dravet, C, Gaggero, R, Bernardina, Bd, Striano, S, and Tortora, Fabio

Subjects
Male, Pathology, pathology, Child, Child, pathology, Humans, Infant, Magnetic Resonance Imaging, Epilepsies, Myoclonic, Epilepsies, Hippocampus, Severity of Illness Index, Sodium Channels, Epilepsy, genetics, Child, Chromatography, High Pressure Liquid, Chromatography, Brain, Syndrome, Magnetic Resonance Imaging, statistics /&/ numerical data, Phenotype, Neurology, Child, Preschool, High Pressure Liquid, Cerebellar atrophy, Female, diagnosis/genetics/pathology, Female, Genotype, Hippocampu, genetics, Nerve Tissue Protein, MRI, Adult, genetics, Syndrome, medicine.medical_specialty, Adolescent, Genotype, Nerve Tissue Proteins, Preschool, Chromatography, High Pressure Liquid, Epilepsie, Central nervous system disease, Atrophy, Dravet syndrome, medicine, Humans, Preschool, Adolescent, Adult, Brain, Retrospective Studies, Hippocampal sclerosis, business.industry, statistics /&/ numerical data, Male, Mutation, Infant, Cortical dysplasia, medicine.disease, NAV1.1 Voltage-Gated Sodium Channel, High Pressure Liquid, Epilepsies, Myoclonic, diagnosis/genetics/pathology, Female, Genotype, Hippocampus, genetics, Nerve Tissue Proteins, genetics, Phenotype, Retrospective Studies, Severity of Illness Index, Sodium Channels, Mutation, Myoclonic epilepsy, pathology, Neurology (clinical), business, diagnosis/genetics/pathology, genetics, Phenotype, Retrospective Studies, Severity of Illness Index, Sodium Channel
Abstract

Summary: Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype–phenotype correlations in severe myoclonic epilepsy of infancy (SMEI, Dravet syndrome). Patients and Methods: Alpha-subunit type A of voltage-gated sodium channel (SCN1A) mutational screening was performed by denaturing high-performance liquid chromatography (DHPLC) and multiplex ligation probe amplification (MLPA). MRI inclusion criteria were: last examination obtained after the age of 4 years on 1.5-T systems; hippocampal cuts acquired perpendicular to the long axis of the hippocampus; qualitative assessment was performed on T1-weighted, T2-weighted, proton density, and 1–3 mm thick coronal FLAIR images. Results: We collected 58 SMEI patients in whom last MRI was performed at or later than 4 years of age. SCN1A mutations occurred in 35 (60%) cases. Thirteen (22.4%) out of 58 patients showed abnormal MRIs. Eight patients showed cortical brain atrophy of which 3 associated to ventricles abnormalities, 1 to cerebellar atrophy, 1 to white matter hyperintensity; 3 patients had ventricles enlargement only; 1 patient showed hippocampal sclerosis (HS); 1 had focal cortical dysplasia. Genotype–phenotype analysis indicated that abnormal MRIs occurred more frequently in patients without SCN1A mutations (9/23; 39.1%) compared to those carrying SCN1A mutations (4/35; 11.4%) (p = 0.02). Conclusion: Different brain abnormalities may occur in SMEI. Only one case with HS was observed; thus, our study does not support the association between prolonged febrile seizures and HS in SMEI. Abnormal MRIs were significantly more frequent in patients without SCN1A mutations. Prospective MRI studies will assess the etiological role of the changes observed in these patients.

Published
2007

10. A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

Author

Simonati A, Santorum E, Tessa A, Polo A, Simonetti F, Bernardina BD, Santorelli FM, and Rizzuto N

Subjects
Atrophy complications, Atrophy pathology, Child, Dystonia physiopathology, Evoked Potentials, Visual physiology, Humans, Magnetic Resonance Imaging, Male, Neuronal Ceroid-Lipofuscinoses diagnosis, Tripeptidyl-Peptidase 1, Caudate Nucleus pathology, Codon, Nonsense genetics, Dystonia complications, Gene Expression genetics, Neuronal Ceroid-Lipofuscinoses complications, Neuronal Ceroid-Lipofuscinoses genetics, Transcription Factors genetics
Abstract

Clinical features and results of the blood DNA analysis are reported of a child affected with a distinct phenotype of the late infantile form of neuronal ceroid-lipofuscinosis (LINCL). He was affected by microcephaly and hypotonia since the fourth month of life; acquisition of motor and language abilities was severely impaired, and a disorder of communication with stereotyped movements followed. By age four, he developed signs and symptoms of progressive myoclonic encephalopathy along with motor and cognitive deterioration. Extrapyramidal signs were associated with neuroradiological findings of marked atrophy of the caudate nucleus. Specific curvilinear bodies were observed in blood lymphocytes and skin biopsy. Homozygous, nonsense mutation in the CLN2 gene was found giving origin to an Arg208stop, which produces an early transcription termination with loss of translation of about 50% of the gene product. Any relationship between the severe clinical features of our patient and the homozygous mutation here reported must be investigated on a larger number of LINCL patients bearing the same mutation.

Published
2000
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11. Rasmussen's syndrome: longitudinal EEG study from the first seizure to epilepsia partialis continua.

Author

Capovilla G, Paladin F, and Bernardina BD

Subjects
Child, Chronic Disease, Delta Rhythm statistics & numerical data, Disease Progression, Encephalitis physiopathology, Epilepsia Partialis Continua physiopathology, Epilepsies, Partial physiopathology, Female, Hemiplegia diagnosis, Hemiplegia physiopathology, Humans, Sleep physiology, Syndrome, Wakefulness physiology, Electroencephalography statistics & numerical data, Encephalitis diagnosis, Epilepsia Partialis Continua diagnosis, Epilepsies, Partial diagnosis
Abstract

Purpose: The aim of our work was to describe the initial electroencephalographic characteristics of Rasmussen's syndrome (RS)., Methods: We performed repeated EEG recordings in an 11-year 5-month-old girl affected by RS, as demonstrated through the progressive evolution of the illness. All EEGs were carried out in polygraphy and videorecordered, both in waking and in sleep., Results: In our opinion, our patient's EEG picture is absolutely unusual in childhood partial epilepsy form without any neuroradiologic perturbation. Delta focal activity persistence in such a clinical context should be considered an RS sign, among the possible causes., Conclusions: We are not aware of any early-stage RS EEG description. We think that the initial RS EEG picture is so unusual as to suggest such pathology. We hope that analogous reports can confirm our belief.

Published
1997
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12. Microgyria associated with Sturge-Weber angiomatosis.

Author

Simonati A, Colamaria V, Bricolo A, Bernardina BD, and Rizzuto N

Subjects
Atrophy, Calcinosis pathology, Calcinosis surgery, Cerebral Cortex pathology, Dominance, Cerebral physiology, Humans, Infant, Male, Neurons pathology, Spasms, Infantile surgery, Status Epilepticus surgery, Sturge-Weber Syndrome surgery, Cerebral Cortex abnormalities, Spasms, Infantile pathology, Status Epilepticus pathology, Sturge-Weber Syndrome pathology
Abstract

A case is reported of an infant affected with Sturge-Weber disease who underwent left hemispherectomy due to untreatable seizures when 97 days old. Pathological analysis of the surgical specimens revealed the presence of four-layered microgyric cortex below the angiomatosis, intense gliosis, and the presence of calcifications of both the abnormal cortex and the underlying white matter. These findings suggest that the early infantile form of Sturge-Weber disease is associated with a developmental disorder of the cortical organization. Such abnormalities are consistent with the presence of an epileptogenic condition that is unresponsive to pharmacological treatment.

Published
1994
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13. Rolandic spikes in children with and without epilepsy. (20 subjects polygraphically studied during sleep).

Author

Bernardina BD and Beghini G

Subjects
Child, Child, Preschool, Female, Humans, Male, Cerebral Cortex physiopathology, Electroencephalography, Epilepsy physiopathology, Sleep physiology
Abstract

The authors polygraphically studied the nocturnal sleep of 20 neurologically normal children with typical centrotemporal spikes. The children were divided into two groups: (A) 10 children with centrotemporal spikes and benign epilepsy; and (B) 10 children with centrotemporal spikes without epilepsy. The mean age when the average period of sleep record was performed was the same for the two groups, 8.5 years. The cyclic organization of sleep and the percentages of the different stages were normal in all 20 subjects. The number of spikes was counted in all the subjects during wakefulness and during different stages of sleep. All subjects of both groups showed an important increase in the frequency of spikes going from drowsiness until slow sleep; on the other hand, the activity remained high during REM sleep only for subjects of Group A. Other differences between the two groups concerned the appearnce during sleep of generalized spike waves and independent Rolandic spikes. The authors conclude with the affirmation that the polygraphic study of nocturnal sleep in children with Rolandic spikes can be an additional parameter for differential diagnosis between children with and those without epilepsy.

Published
1976
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16. Pavor nocturnus of non-epileptic nature in epileptic children.

Author

Tassinari CA, Mancia D, Bernardina BD, and Gastaut H

Subjects
Adolescent, Cerebral Cortex physiopathology, Child, Preschool, Electrocardiography, Electroencephalography, Electromyography, Electrooculography, Epilepsy physiopathology, Humans, Male, Respiration, Sleep Stages, Wakefulness, Epilepsy complications, Fear, Sleep Wake Disorders etiology
Published
1972
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17. Polygraphic study of dyssynergia cerebellaris myoclonica (Ramsay-Hunt syndrome) and of the intention myoclonus (Lance-Adams syndrome) during sleep.

Author

Tassinari CA, Coccagna G, Mantovani M, Bernardina BD, and Roger J

Subjects
Electrocardiography, Electroencephalography, Electromyography, Electrooculography, Humans, Photic Stimulation, Sleep Stages, Sleep, REM, Wakefulness, Brain physiopathology, Cerebellar Ataxia physiopathology, Epilepsy physiopathology, Eye Movements, Heart physiopathology, Muscles physiopathology, Myoclonus physiopathology, Sleep
Published
1973
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