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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer.
  • Hardies K; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg, Institute for Systems Biology, Seattle, USA.
  • Djémié T; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Tarta-Arsene O; Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania, Department of Neurology, Pediatric Neurology, Psychiatry, Child and Adolescent Psychiatry, and Neurosurgery, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
  • Deconinck T; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Craiu D; Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania, Department of Neurology, Pediatric Neurology, Psychiatry, Child and Adolescent Psychiatry, and Neurosurgery, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
  • Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrechts University, Kiel, Germany, Division of Neurology, The Children's Hospital of Philadelphia, Philadephia, USA.
  • Suls A; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Balling R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg.
  • Weckhuysen S; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • De Jonghe P; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium, Division of Neurology, Antwerp University Hospital, Antwerp, Belgium and peter.dejonghe@molgen.vib-ua.be.
  • Hirst J; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Hum Mol Genet ; 24(8): 2218-27, 2015 Apr 15.
Article en En | MEDLINE | ID: mdl-25552650
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Convulsiones Febriles / Complejo 4 de Proteína Adaptadora / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Convulsiones Febriles / Complejo 4 de Proteína Adaptadora / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2015 Tipo del documento: Article