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  1. 1
    A. S. Allen ; S. F. Berkovic ; P. Cossette ; N. Delanty ; D. Dlugos ; E. E. Eichler ; M. P. Epstein ; T. Glauser ; D. B. Goldstein ; Y. Han ; E. L. Heinzen ; Y. Hitomi ; K. B. Howell ; M. R. Johnson ; R. Kuzniecky ; D. H. Lowenstein ; Y. F. Lu ; M. R. Madou ; A. G. Marson ; H. C. Mefford ; S. Esmaeeli Nieh ; T. J. O'Brien ; R. Ottman ; S. Petrovski ; A. Poduri ; E. K. Ruzzo ; I. E. Scheffer ; E. H. Sherr ; C. J. Yuskaitis ; B. Abou-Khalil ; B. K. Alldredge ; J. F. Bautista ; A. Boro ; G. D. Cascino ; D. Consalvo ; P. Crumrine ; O. Devinsky ; M. Fiol ; N. B. Fountain ; J. French ; D. Friedman ; E. B. Geller ; S. Glynn ; S. R. Haut ; J. Hayward ; S. L. Helmers ; S. Joshi ; A. Kanner ; H. E. Kirsch ; R. C. Knowlton ; E. H. Kossoff ; R. Kuperman ; S. M. McGuire ; P. V. Motika ; E. J. Novotny ; J. M. Paolicchi ; J. M. Parent ; K. Park ; R. A. Shellhaas ; J. J. Shih ; R. Singh ; J. Sirven ; M. C. Smith ; J. Sullivan ; L. Lin Thio ; A. Venkat ; E. P. Vining ; G. K. Von Allmen ; J. L. Weisenberg ; P. Widdess-Walsh ; M. R. Winawer
    Nature Publishing Group (NPG)
    Published 2013
    Staff View
    Publication Date:
    2013-08-13
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Child Development Disorders, Pervasive ; Cohort Studies ; Exome/genetics ; Female ; Fragile X Mental Retardation Protein/metabolism ; Genetic Predisposition to Disease/genetics ; Humans ; Infant ; Intellectual Disability/*genetics/physiopathology ; Lennox Gastaut Syndrome ; Male ; Mutation/*genetics ; Mutation Rate ; N-Acetylglucosaminyltransferases/genetics ; Probability ; Receptors, GABA-A/genetics ; Spasms, Infantile/*genetics/physiopathology
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    Staff View
    ISSN:
    1432-1998
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Abstract 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.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/s002470000312

    Articles: DFG German National Licenses