Research Topics
Genomes and GenesSpecies | Sergiusz JozwiakSummaryAffiliation: The Children's Memorial Health Institute Country: Poland Publications
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Detail Information
Publications
Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesisSergiusz Jozwiak
Department of Neurology, Children s Memorial Health Institute, Warsaw, Poland
J Child Neurol 19:102-6. 2004....- [Research advances in molecular genetics of epilepsies]Sergiusz Jozwiak
Klinika Neurologii i Epileptologii, Instytut Pomnik Centrum Zdrowia Dziecka, Al Dzieci Polskich 20, 04 736 Warszawa
Neurol Neurochir Pol 39:497-508. 2005..On the other hand, defects in the same locus can result in heterogeneous phenotypes. This can indicate multifactorial pathogenesis of epilepsy and implicate further revision of epilepsies and epileptic seizures classification... - [Tests for loss of heterozygosity in tuberous sclerosis]S Jozwiak
Klinika Neurologii Instytutu Pomnik Centrum Zdrowia Dziecka w Warszawie
Przegl Lek 58:12-5. 2001..The presence of LOH in internal organ tumors is consistent with the Knudson's two-hit model in TS. The frequency of LOH depends on the type of tumor and type of mutation (TSC1 or TSC2)... - Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significanceS Jozwiak
Neurology, The Children s Memorial Health Institute, Warsaw, Poland
Int J Dermatol 37:911-7. 1998..Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas... - Open study evaluating lamotrigine efficacy and safety in add-on treatment and consecutive monotherapy in patients with carbamazepine- or valproate-resistant epilepsyS Jozwiak
Department of Neurology, Institute Pomnik CZD, Al Dzieci Polskich 20, 04 736 Warszawa, Poland
Seizure 9:486-92. 2000..An additive effect between lamotrigine and valproate was observed... - Clinical and genotype studies of cardiac tumors in 154 patients with tuberous sclerosis complexSergiusz Jozwiak
Department of Neurology and Epileptology, Children s Memorial Health Institute, Aleja Dzieci Polskich 20, 04 730 Warsaw, Poland
Pediatrics 118:e1146-51. 2006..Our aim for this study was to characterize the incidence, progression, and clinical consequences of tuberous sclerosis complex-associated rhabdomyomas in a large cohort of patients with TSC1 and TSC2 genotypes... 
Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complexSergiusz Jozwiak
Department of Neurology and Epileptology, The Children s Memorial Health Institute, Warsaw, Poland
Eur J Paediatr Neurol 15:424-31. 2011..Clinical epileptic seizures are preceded by deterioration of EEG recording thus infants with high risk of epilepsy can be identified...- Expression of tuberin and hamartin in tuberous sclerosis complex-associated and sporadic cortical dysplasia of Taylor's balloon cell typeWiesława Grajkowska
Department of Pathology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
Folia Neuropathol 46:43-8. 2008..In conclusion, loss of TSC1 and TSC2 products expression in balloon cells of both cortical dysplasia type IIB in TSC-related and sporadic patients suggests that FCD type IIB may represent the focal form of TSC... - Cardiac rhabdomyomas in tuberous sclerosis complex show apoptosis regulation and mTOR pathway abnormalitiesKatarzyna Kotulska
Department of Neurology and Epileptology, The Children s Memorial Health Institute, Warsaw, Poland
Pediatr Dev Pathol 12:89-95. 2009..Hamartin and tuberin expression was decreased in tumors versus normal heart tissues. This is the first study showing mTOR pathway dysregulation and an increased expression of proapoptotic Bax protein in CRs associated with TSC... - Brain tumor formation in tuberous sclerosis depends on Erk activationJaroslaw Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, and Department of Pathology, The Children s Memorial Health Institute, Warsaw, Poland
Neuromolecular Med 9:117-27. 2007..Importantly, Erk inhibition leads to the decrease of proliferation potential of such lines. These results show that Erk is specifically implicated in the pathogenesis of hamartomas... - Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complexMagdalena Kaczorowska
Department of Neurology Radiology, MR Unit Pediatric Rehabilitation Psychology, The Children s Memorial Health Institute, Warsaw, Poland
Epilepsia 52:22-7. 2011..The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome... - Tuberous sclerosis complex: tumors and tumorigenesisJulita Borkowska
Department of Child Neurology, Children s Memorial Health Institute, Warsaw, Poland
Int J Dermatol 50:13-20. 2011..The authors elucidate the variety of neoplasms seen in TSC patients, along with their clinical significance, and suggest suitable evaluation and management strategies... - Subependymal giant cell astrocytomas with atypical histological features mimicking malignant gliomasWiesława Grajkowska
Department of Pathology, The Children s Memorial Health Institute, Warsaw, Poland
Folia Neuropathol 49:39-46. 2011..We suggest recognizing such cases of subependymal giant cell astrocytoma as atypical SEGAs... - Fibroblasts from normal skin of a tuberous sclerosis patient show upregulation of mTOR pathwayJaroslaw Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland
Am J Dermatopathol 31:68-70. 2009..We found that even healthy skin fibroblasts show upregulation of S6 ribosomal protein... - Effective everolimus treatment of inoperable, life-threatening subependymal giant cell astrocytoma and intractable epilepsy in a patient with tuberous sclerosis complexMarta Perek-Polnik
Department of Oncology, The Children s Memorial Health Institute, Warsaw, Poland
Eur J Paediatr Neurol 16:83-5. 2012..Moreover, the therapy was well tolerated. These findings indicate that everolimus treatment should be considered as a therapeutic option alternative to surgery in patients with tuberous sclerosis complex... - Multiple cardiac rhabdomyomas as a sole symptom of tuberous sclerosis complex: case report with molecular confirmationSergiusz Jozwiak
Department of Neurology, The Children s Memorial Health Institute, Warsaw, Poland
J Child Neurol 20:988-9. 2005..We propose that all cases of multiple cardiac rhabdomyomas in an infant be given a tentative diagnosis of tuberous sclerosis complex... 
Novel proteins regulated by mTOR in subependymal giant cell astrocytomas of patients with tuberous sclerosis complex and new therapeutic implicationsMagdalena Ewa Tyburczy
The Nencki Institute of Experimental Biology, Warsaw, Poland
Am J Pathol 176:1878-90. 2010....- Giant cells: contradiction to two-hit model of tuber formation?Jaroslaw Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw ul, Chalubinskiego, Warsaw, Poland
Cell Mol Neurobiol 27:251-61. 2007..In this paper, we review literature covering origination of giant cells and present several hypotheses explaining why in spite of the presence of hamartin and tuberin, brain lesions form in TSC patients... - Possible mechanisms of disease development in tuberous sclerosisJaroslaw Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland
Lancet Oncol 9:73-9. 2008..We postulate that ERK activation consistently detected in different tuberous-sclerosis-associated tumours is a molecular trigger for the development of these neoplasms... - Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomasJaroslaw Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland
Brain Dev 29:273-80. 2007..At the same time, c-Myc and N-Myc proteins were detected in the same two samples. Thus, we show for the first time that aberrant WNT signaling may contribute to the pathogenesis of TS-associated SEGAs... - Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutationPaulina Rok
Department of Child Neurology and Epileptology, The Children s Memorial Health Institute, Warsaw, Poland
Med Sci Monit 11:CR230-234. 2005..We tried to discover to what extent we may expect variability in the clinical set of symptoms in patients with identical mutation of TSC2 gene... - Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillationAgnieszka Madej-Pilarczyk
Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, Warsaw, Poland
Eur J Paediatr Neurol 12:427-30. 2008..To our knowledge, this is the second case of such association described in the literature... - The role of trkB receptor in the formation of post-traumatic neuromaKatarzyna Kotulska
Department of Neurology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsaw, Poland
Folia Neuropathol 44:221-7. 2006..We also noticed many more mast cells accumulated at the surgery site in trkB-deficient than in wild-type animals. These results indicate the important role of BDNF receptor in post-traumatic neuroma formation... - [Usefulness of cerebral SPECT in the children with migraine]Tomasz Kmiec
Klinika Neurologii i Epileptologii, Instytut Pomnik Centrum Zdrowia Dziecka w Warszawie
Neurol Neurochir Pol 39:S36-41. 2005..CONCLUSIONS: The interictal rCBF is both reduced and asymmetric in children suffering from migraine and the side of migraine pain is in accordance with the localization of hypoperfusion in SPECT... - [Psychomotor development rate of children with infantile neuronal ceroid lipofuscinosis]Tomasz Kmiec
Klinika Neurologii i Epileptologii, Instytut Pomnik Centrum Zdrowia Dziecka 04 730 Warszawa, Aleja Dzieci Polskich 20
Przegl Lek 63:44-7. 2006..The aim of study: Cognition of psychomotor development in children with LINCL... - Molecular activity of sirolimus and its possible application in tuberous sclerosis treatmentJaroslaw Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Warsaw, Poland
Med Res Rev 26:160-80. 2006..Current studies with sirolimus performed in tuberous sclerosis animal models are presented. Possible application of sirolimus for treating tuberous sclerosis, disease caused by mutations of TSC proteins, is discussed... - [Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene]Tomasz Kmiec
Klinika Neurologii i Epileptologii, Instytut Pomnik Centrum Zdrowia Dziecka w Warszawie, Warszawa, Poland
Neurol Neurochir Pol 41:267-71. 2007..This article also presents clinical symptoms and course of this degenerative disorder. The authors point out the important role of neuroimaging and the necessity of molecular examination as a new diagnostic tool... - Successful antiepileptic drug withdrawal in infants with epilepsy and cytomegalovirus neuroinfection: longitudinal studyDorota Dunin-Wasowicz
Neurology and Epileptology Department, The Children s Memorial Health Institute, Warsaw, Poland
Epilepsia 51:1212-8. 2010..A prospective study estimating antiepileptic and antiviral regimens administered to infants with symptomatic epilepsy and human cytomegalovirus (HCMV) neuroinfection followed for at least 4 years... - Giant cells: contradiction to two-hit model of tuber formation?Jaroslaw Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, and Department of Pediatric Neurology, Children s Memorial Hospital, Warsaw, Poland
Cell Mol Neurobiol 25:795-805. 2005..3. In the present paper we review literature covering origination of giant cells and present several hypotheses explaining why in spite of the presence of hamartin and tuberin, brain lesions form in TSC patients... - Everolimus (RAD001): first systemic treatment for subependymal giant cell astrocytoma associated with tuberous sclerosis complexSergiusz Jozwiak
Department of Neurology and Epileptology, The Children s Memorial Health Institute, 04 730, Warsaw, Poland
Future Oncol 8:1515-23. 2012..The most common adverse events in clinical trials were stomatitis/mouth ulceration and upper respiratory tract infections, and most adverse events were grade 1 or 2; grade 4 events were rare... - Cyst-like cortical tubers in patients with tuberous sclerosis complex: MR imaging with the FLAIR sequenceElzbieta Jurkiewicz
MR Unit, The Children s Memorial Health Institute, Al Dzieci Polskich 20, Warsaw, Poland
Pediatr Radiol 36:498-501. 2006..Tuberous sclerosis complex (TSC) is an inherited disorder characterized by the presence of cortical tubers, the majority of which are solid and show high signal on FLAIR images. Low-signal tubers are less frequent... - Pyridoxine-dependent seizures caused by alpha amino adipic semialdehyde dehydrogenase deficiency: the first polish case with confirmed biochemical and molecular pathologyMagdalena Kaczorowska
Department of Child Neurology, The Children s Memorial Health Institute, Warsaw, Poland
J Child Neurol 23:1455-9. 2008..Due to the availability of reliable laboratory testing, confirmation of the diagnosis was made without the life-threatening trial of pyridoxine withdrawal... - Dietary treatment of epilepsy: rebirth of an ancient treatmentSergiusz Jozwiak
Department of Neurology and Epileptology of the Children s Memorial Health Institute, Warsaw, Poland
Neurol Neurochir Pol 45:370-8. 2011..This dietary treatment for epilepsy has undergone a rebirth. Its widespread use in Poland and Europe is a welcome additional treatment for those with drug-resistant epilepsy... - Epidermal nevus syndrome and intraspinal hemorrhageKatarzyna Kotulska
Department of Neurology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warsawa, Poland
Brain Dev 28:541-3. 2006..We report a case of a patient with diagnosed ENS without any primary CNS lesions, who developed paraplegia resulting from spinal cord hemorrhage. The patient presented many vascular and skeletal anomalies... - Gene table: monogenic determined neurocutaneous disordersSergiusz Jozwiak
Department of Neurology and Epileptology, The Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 783 Warszawa, Poland
Eur J Paediatr Neurol 14:449-51. 2010..Recently, a great progress has been achieved in understanding the pathogenesis of many neurocutaneous disorders. This work presents very concise review of molecular background of monogenic determined neurocutaneous disorders... - Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosisP S Roberts
Hematology Division, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA
J Med Genet 41:e69. 2004 - Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patientsP J Wilson
Molecular Neurogenetics Unit, MGH East, Charlestown, MA 02129, USA
Hum Mol Genet 5:249-56. 1996..These data confirm that TSC2 is indeed the relevant gene, and that a substantial number of sporadic cases arise from mutations in the TSC2 gene... - Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34M van Slegtenhorst
Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, Netherlands
Science 277:805-8. 1997..In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor... - Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetranceJ Kwiatkowska
Division of Experimental Medicine and Medical Oncology, Brigham and Women s Hospital, Boston, MA 02115, USA
Ann Hum Genet 62:277-85. 1998..The observations indicate that TSC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15-20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur... - Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1J Kwiatkowska
Experimental Medicine Division, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Genomics 44:350-4. 1997..Through SSCP and heteroduplex analysis of genomic DNA, we found two intragenic polymorphisms but no evidence for significant mutations in patients with tuberous sclerosis in this gene... - Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organsS L Dabora
Genetics Laboratory, Division of Hematology, Brigham and Women s Hospital, Boston, MA, 02115, USA
Am J Hum Genet 68:64-80. 2001.... - Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1E P Henske
Division of Experimental Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Ann Hum Genet 59:25-37. 1995..VAV2 is likely to serve a similar role more generally in mammalian cells, but is not the TSC1 gene... - Immunohistochemical and microscopic studies on giant cells in tuberous sclerosisJ Jozwiak
Department of Histology and Embryology, Center for Biostructure Research, Medical University of Warsaw, Poland
Histol Histopathol 20:1321-6. 2005..We conclude that giant cells in cortical tubers and SEGAs are the same undifferentiated cells that, depending on individual determination, can show neural or glial features...