Search Results - "Domanska‐Pakieła, Dorota"

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial by Kotulska, Katarzyna, Kwiatkowski, David J., Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Jansen, Floor, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Sijko, Kamil, Głowacka‐Walas, Jagoda, Borkowska, Julita, Sadowski, Krzysztof, Domańska‐Pakieła, Dorota, Moavero, Romina, Hertzberg, Christoph, Hulshof, Hanna, Scholl, Theresa, Benova, Barbora, Aronica, Eleonora, Ridder, Jessie, Lagae, Lieven, Jóźwiak, Sergiusz, Anink, J., Aronica, E., Benova, B., Benvenuto, A., Blazejczyk, M., Bongaerts, A., Borkowska, J., Breuillard, D., Chmielewski, D., Curatolo, P., Dabrowska, M., Domańska‐Pakieła, D., Feucht, M., Giannikou, K., Głowacka‐Walas, J., Hamieh, L., Harȩza, A., Hertzberg, Ch, Hulshof, H., Huschner, F., Iyer, A., Jansen, A., Jansen, F., Janssen, B., Jaworski, J., Jùźwiak, S., Kaczorowska‐Frontczak, M., Kotulska, K., Krsek, P., Kwiatkowski, D., Lagae, L., Lehmann, K., Leusman, A., Maćkowiak, N., Mills, J., Moavero, R., Muelebner, A., Nabbout, R., Ridder, J., Riney, K., Sadowski, K., Samueli, S., Scheldeman, C., Scholl, T., Sciuto, A., Sijko, K., Słowińska, M., Tempes, A., Scheppingen, J., Verhelle, B., Vervisch, J., Urbańska, M., Weschke, B., Wojdan, K.

“…Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of…”
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Preventive Antiepileptic Treatment in Tuberous Sclerosis Complex: A Long-Term, Prospective Trial by Jozwiak, Sergiusz, Słowińska, Monika, Borkowska, Julita, Sadowski, Krzysztof, Łojszczyk, Barbara, Domańska-Pakieła, Dorota, Chmielewski, Dariusz, Kaczorowska-Frontczak, Magdalena, Głowacka, Jagoda, Sijko, Kamil, Kotulska, Katarzyna

“…Drug-resistant epilepsy is the main risk factor for future intellectual disability in patients with tuberous sclerosis complex. Clinical epileptic seizures are…”
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Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes by De Ridder, Jessie, Verhelle, Birgit, Vervisch, Jan, Lemmens, Katrien, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska‐Pakieła, Dorota, Kaczorowska‐Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Lagae, Lieven, Anink, J, Benvenuto, A, Blazejczyk, M, Bongaarts, A, Borkowska, J, Breuillard, D, Chmielewski, D, Dabrowska, M, Emberti Gialloreti, L, Giannikou, K, Głowacka‐Walas, J, Hamieh, L, Haręza, A, Hulshof, H, Iyer, A, Janssen, B, Jaworski, J, Lehmann, K, Leusman, A, Maćkowiak, N, Mills, J. D., Muehlebner, A, Sadowski, K, Scheldeman, C, Scholl, T, Schooneveld, M, Sciuto, A, Sijko, K, Slowinska, M, Tempes, A, Urbańska, M, van Scheppingen, J

“…Summary Objective To study the association between timing and characteristics of the first electroencephalography (EEG) with epileptiform discharges (ED‐EEG)…”
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Antiepileptic Effect and Safety Profile of Rapamycin in Pediatric Patients With Tuberous Sclerosis Complex by Sadowski, Krzysztof, Sijko, Kamil, Domańska-Pakieła, Dorota, Borkowska, Julita, Chmielewski, Dariusz, Ulatowska, Agata, Józwiak, Sergiusz, Kotulska, Katarzyna

“…Epilepsy develops in 70-90% of children with Tuberous Sclerosis Complex (TSC) and is often resistant to medication. Treatment with mTOR pathway inhibitors is…”
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Surgical Treatment of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex Patients by Kotulska, Katarzyna, MD, PhD, Borkowska, Julita, MD, Roszkowski, Marcin, MD, PhD, Mandera, Marek, MD, PhD, Daszkiewicz, Paweł, MD, PhD, Drabik, Krzysztof, MD, Jurkiewicz, Elzbieta, MD, PhD, Larysz-Brysz, Magdalena, PhD, Nowak, Katarzyna, MD, Grajkowska, Wiesława, MD, PhD, Domańska-Pakieła, Dorota, MD, PhD, Jóźwiak, Sergiusz, MD, PhD

“…Abstract Background Subependymal giant cell astrocytoma is a brain tumor associated with tuberous sclerosis complex. There are two treatment options for…”
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Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex by Lavanga, Mario, De Ridder, Jessie, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska-Pakieła, Dorota, Kaczorowska-Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Jahodova, Alena, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Lagae, Lieven, Van Huffel, Sabine, Caicedo, Alexander

“…•The early-life EEG of a TSC patients with autism spectrum disorder might be a dysmature EEG, defined as signal with higher discontinuity, slow-wave…”
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Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics by De Ridder, Jessie, Lavanga, Mario, Verhelle, Birgit, Vervisch, Jan, Lemmens, Katrien, Kotulska, Katarzyna, Moavero, Romina, Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Domanska-Pakieła, Dorota, Kaczorowska-Frontczak, Magdalena, Hertzberg, Christoph, Ferrier, Cyrille H., Samueli, Sharon, Benova, Barbora, Aronica, Eleonora, Kwiatkowski, David J., Jansen, Floor E., Jóźwiak, Sergiusz, Van Huffel, Sabine, Lagae, Lieven

“…Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with a high risk of early-onset epilepsy and a high prevalence of neurodevelopmental…”
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Clinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex by Jozwiak, Sergiusz, Kotulska, Katarzyna, Kasprzyk-Obara, Jolanta, Domanska-Pakiela, Dorota, Tomyn-Drabik, Malgorzata, Roberts, Penelope, Kwiatkowski, David

“…Tuberous sclerosis complex is an autosomal dominant disorder in which hamartomas occur in several organs. Cardiac rhabdomyomas, the most common heart tumors of…”
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Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex by Kaczorowska, Magdalena, Jurkiewicz, Elżbieta, Domańska‐Pakieła, Dorota, Syczewska, Małgorzata, Łojszczyk, Barbara, Chmielewski, Dariusz, Kotulska, Katarzyna, Kuczyński, Dariusz, Kmieć, Tomasz, Dunin‐Wąsowicz, Dorota, Kasprzyk‐Obara, Jolanta, Jóźwiak, Sergiusz

“…Summary Purpose:  The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex…”
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Treatment before Seizures: New Indications for Antiepileptic Therapy in Children with Tuberous Sclerosis Complex by Józwiak, Sergiusz, Domańska‐Pakieła, Dorota, Kotulska, Katarzyna, Kaczorowska, Magdalena

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Cardiac Rhabdomyomas in Tuberous Sclerosis Complex Show Apoptosis Regulation and mTOR Pathway Abnormalities by Kotulska, Katarzyna, Larysz-Brysz, Magdalena, Grajkowska, Wiesława, Jóźwiak, Jarosław, Włodarski, Paweł, Sahin, Mustafa, Lewin-Kowalik, Joanna, Domańska-Pakieła, Dorota, Jóźwiak, Sergiusz

“…Cardiac rhabdomyoma (CR) is the most common heart tumor in children and is usually associated with tuberous sclerosis complex (TSC). Tuberous sclerosis complex…”
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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study by Ogórek, Barbara, Hamieh, Lana, Hulshof, Hanna M., Lasseter, Kathryn, Klonowska, Katarzyna, Kuijf, Hugo, Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Benova, Barbora, Aronica, Eleonora, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Janson, Stef, Kozlowski, Piotr, Urbanska, Malgorzata, Jaworski, Jacek, Jozwiak, Sergiusz, Jansen, Floor E., Kotulska, Katarzyna, Kwiatkowski, David J.

“…Purpose To perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical…”
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Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex by Jóźwiak, Sergiusz, Kotulska, Katarzyna, Domańska-Pakieła, Dorota, Łojszczyk, Barbara, Syczewska, Małgorzata, Chmielewski, Dariusz, Dunin-Wąsowicz, Dorota, Kmieć, Tomasz, Szymkiewicz-Dangel, Joanna, Kornacka, Maria, Kawalec, Wanda, Kuczyński, Dariusz, Borkowska, Julita, Tomaszek, Katarzyna, Jurkiewicz, Elżbieta, Respondek-Liberska, Maria

“…Abstract Background Epilepsy appears in 70–80% of patients with tuberous sclerosis complex, most commonly in the first year of age. Early manifestation of…”
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Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years by Huschner, Franz, Głowacka-Walas, Jagoda, Mills, James D., Klonowska, Katarzyna, Lasseter, Kathryn, Asara, John M., Moavero, Romina, Hertzberg, Christoph, Weschke, Bernhard, Riney, Kate, Feucht, Martha, Scholl, Theresa, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Petrák, Bořivoj, van Scheppingen, Jackelien, Zamecnik, Josef, Iyer, Anand, Anink, Jasper J., Mühlebner, Angelika, Mijnsbergen, Caroline, Lagae, Lieven, Curatolo, Paolo, Borkowska, Julita, Sadowski, Krzysztof, Domańska-Pakieła, Dorota, Blazejczyk, Magdalena, Jansen, Floor E., Janson, Stef, Urbanska, Malgorzata, Tempes, Aleksandra, Janssen, Bart, Sijko, Kamil, Wojdan, Konrad, Jozwiak, Sergiusz, Kotulska, Katarzyna, Lehmann, Karola, Aronica, Eleonora, Jaworski, Jacek, Kwiatkowski, David J.

“…We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy…”
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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression by Rydzanicz, Małgorzata, Wachowska, Małgorzata, Cook, Erik C, Lisowski, Paweł, Kuźniewska, Bożena, Szymańska, Krystyna, Diecke, Sebastian, Prigione, Alessandro, Szczałuba, Krzysztof, Szybińska, Aleksandra, Koppolu, Agnieszka, Murcia Pienkowski, Victor, Kosińska, Joanna, Wiweger, Małgorzata, Kostrzewa, Grażyna, Brzozowska, Małgorzata, Domańska-Pakieła, Dorota, Jurkiewicz, Elżbieta, Stawiński, Piotr, Gromadka, Agnieszka, Zielenkiewicz, Piotr, Demkow, Urszula, Dziembowska, Magdalena, Kuźnicki, Jacek, Creamer, Trevor P, Płoski, Rafał

“…PPP3CA encodes calmodulin-binding catalytic subunit of calcineurin, a ubiquitously expressed calcium/calmodulin-regulated protein phosphatase. Recently de novo…”
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Epilepsy in newborns with tuberous sclerosis complex by Kotulska, Katarzyna, Jurkiewicz, Elżbieta, Domańska-Pakieła, Dorota, Grajkowska, Wiesława, Mandera, Marek, Borkowska, Julita, Jóźwiak, Sergiusz

“…Abstract Background Epilepsy affects up to 90% of TSC patients and majority of them have seizure at the age of 3–5 months, after a period of latent…”
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Liver Angiomyolipomas in Tuberous Sclerosis Complex—Their Incidence and Course by Jóźwiak, Sergiusz, Sadowski, Krzysztof, Borkowska, Julita, Domańska-Pakieła, Dorota, Chmielewski, Dariusz, Jurkiewicz, Elżbieta, Jaworski, Maciej, Urbańska, Małgorzata, Ogrodnik, Magdalena, Słowińska, Monika, Kotulska, Katarzyna

“…The purpose of this study was to evaluate the epidemiology and clinical significance of hepatic angiomyolipomas in patients with tuberous sclerosis complex. We…”
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Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations by KOZLOWSKI, Piotr, ROBERTS, Penelope, JOZWIAK, Sergiusz, KWIATKOWSKI, David J, DABORA, Sandra, FRANZ, David, BISSLER, John, NORTHRUP, Hope, KIT SING AU, LAZARUS, Ross, DOMANSKA-PAKIELA, Dorota, KOTULSKA, Katarzyna

“…Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by mutations in either of two genes, TSC1 and TSC2. Point mutations and small indels account…”
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Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex: Case Report With Molecular Confirmation by Jóźwiak, Sergiusz, Domańska-Pakieła, Dorota, Kwiatkowski, David J., Kotulska, Katarzyna

“…We report a child in whom multiple cardiac rhabdomyomas were identified on routine fetal ultrasonography. Molecular genetic studies identified the TSC2 gene…”
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Everyday nonconvulsive status epilepticus episodes in a 12-year-old girl with pharmacoresistant epilepsy of unknown etiology admitted for presurgical evaluation by Kaczorowska-Frontczak, Magdalena, Domanska-Pakiela, Dorota, Kotulska-Jozwiak, Katarzyna

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