caa a22 4500 475756533 CHVBK 20180406123539.0 cr unu---uuuuu 170329e20001001xx s 000 0 eng 10.1007/s002470000312 doi (NATIONALLICENCE)springer-10.1007/s002470000312 Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings [Elektronische Daten] [T. Y. Poussaint, J. W. Fox, W. B. Dobyns, R. Radtke, I. E. Scheffer, S. F. Berkovic, P. D. Barnes, P. R. Huttenlocher, C. A. Walsh] Background. The filamin-1 (FLN-1) gene is responsible for periventricular nodular heterotopia (PNH), which is an X-linked dominant neuronal migration disorder. Objective. To review the clinical and imaging findings in a series of patients with documented filamin-1 mutations.¶Materials and methods. A retrospective review of the medical records and MR studies of a series of patients with PNH and confirmed FLN-1 mutations was done. There were 16 female patients (age range: .67-71 years; mean = 28.6) with filamin-1 gene mutations. ¶Results. In six of the patients the same mutation was inherited in four generations in one pedigree. In a second pedigree, a distinct mutation was found in two patients in two generations. In a third pedigree, a third mutation was found in four patients in two generations. The remaining four patients had sporadic de novo mutations that were not present in the parents. Ten patients had seizures, and all patients had normal intelligence. In all 16 patients MR demonstrated bilateral near-continuous PNH. There were no consistent radiographic or clinical differences between patients carrying different mutations.¶Conclusion. Patients with confirmed FLN-1 gene mutations are usually female and have a distinctive MR pattern of PNH. Other female patients with this same MR pattern probably harbor FLN-1 mutations and risk transmission to their progeny. This information is important for genetic counseling. Springer-Verlag Berlin Heidelberg, 2000 Poussaint T. Y. Department of Radiology, Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA e-mail: Tina.Poussaint@TCH. Harvard.edu Tel.: + 1-6 17-3 55 64 50 Fax: + 1-6 17-2 64 71 20, US aut Fox J. W. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA, US aut Dobyns W. B. Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA, US aut Radtke R. Division of Neurology, Duke University Medical Center, Durham, North Carolina, USA, US aut Scheffer I. E. Department of Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Heidelberg, Australia, DE aut Berkovic S. F. Department of Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Heidelberg, Australia, DE aut Barnes P. D. Division of Neuroradiology, Department of Radiology, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA, US aut Huttenlocher P. R. Department of Pediatrics, University of Chicago, Chicago, Illinois, USA, US aut Walsh C. A. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA, US aut https://doi.org/10.1007/s002470000312 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s002470000312 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Poussaint T. Y. Department of Radiology, Children's Hospital, 300 Longwood Avenue, Boston, Massachusetts 02115, USA e-mail: Tina.Poussaint@TCH. Harvard.edu Tel.: + 1-6 17-3 55 64 50 Fax: + 1-6 17-2 64 71 20, US aut NATIONALLICENCE 700 1- Fox J. W. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA, US aut NATIONALLICENCE 700 1- Dobyns W. B. Department of Human Genetics, The University of Chicago, Chicago, Illinois, USA, US aut NATIONALLICENCE 700 1- Radtke R. Division of Neurology, Duke University Medical Center, Durham, North Carolina, USA, US aut NATIONALLICENCE 700 1- Scheffer I. E. Department of Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Heidelberg, Australia, DE aut NATIONALLICENCE 700 1- Berkovic S. F. Department of Neurology, University of Melbourne, Austin and Repatriation Medical Centre, Heidelberg, Australia, DE aut NATIONALLICENCE 700 1- Barnes P. D. Division of Neuroradiology, Department of Radiology, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA, US aut NATIONALLICENCE 700 1- Huttenlocher P. R. Department of Pediatrics, University of Chicago, Chicago, Illinois, USA, US aut NATIONALLICENCE 700 1- Walsh C. A. Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA, US aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer