Clinical and genetic aspects of PCDH19 -related epilepsy syndromes and the possible role of PCDH19 mutations in males wi
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ORIGINAL ARTICLE
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders J. J. T. van Harssel & S. Weckhuysen & M. J. A. van Kempen & K. Hardies & N. E. Verbeek & C. G. F. de Kovel & W. B. Gunning & E. van Daalen & M. V. de Jonge & A. C. Jansen & R. J. Vermeulen & W. F. M. Arts & H. Verhelst & A. Fogarasi & J. F. de Rijk-van Andel & A. Kelemen & D. Lindhout & P. De Jonghe & B. P. C. Koeleman & A. Suls & E. H. Brilstra
Received: 12 November 2012 / Accepted: 2 January 2013 / Published online: 20 January 2013 # Springer-Verlag Berlin Heidelberg 2013
Abstract Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. J. J. T. van Harssel : M. J. A. van Kempen : N. E. Verbeek : C. G. F. de Kovel : D. Lindhout : B. P. C. Koeleman : E. H. Brilstra (*) Department of Medical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, the Netherlands e-mail: [email protected] S. Weckhuysen : K. Hardies : P. De Jonghe : A. Suls Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium S. Weckhuysen : K. Hardies : P. De Jonghe : A. Suls Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium S. Weckhuysen Epilepsy Center Kempenhaeghe, Oosterhout, the Netherlands W. B. Gunning The Epilepsy Institutes of the Netherlands Foundation (SEIN), Zwolle, the Netherlands E. van Daalen : M. V. de Jonge Department of Child and Adolescent Psychiatry, University Medical Center Utrecht, Utrecht, the Netherlands A. C. Jansen Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium A. C. Jansen Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium
Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities R. J. Vermeulen Department of Pediatric Neurology, VU University Medical Center, Amsterdam, the Netherlands W. F. M. Arts Department of Neurology, Erasmus Medical Center—Sophia Children’s Hospital, Rotterdam, the Netherlands H. Verhelst Division of Pediatric Neurology, Department of Pediatrics, Ghent University Hospital, Ghent, Belgium A. Fogarasi Epilepsy Center, Bethesda Children’s Hospital, Budapest, Hungary J. F. de Rijk-van Andel Department of Neurology, Amphia Hospital, Breda, the Netherlands A. Kelemen Epilepsy Center, National Institute of Neurosciences, Budapest, Hungary D. Lindhout SEIN—Epilepsy Institutes in the Netherlands Foundation, Hoofddorp, the Netherlands P. De Jonghe Division of Neurology, Antwerp University Hospital, Antwerp, Belgium
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suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravetlike and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epil
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