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EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
Shaw, Marie; Winczewska-Wiktor, Anna; Badura-Stronka, Magdalena; Koirala, Sunita; Gardner, Alison; Kuszel, Lukasz; Kowal, Piotr; Steinborn, Barbara; Starczewska, Monika; Garry, Sarah; Scheffer, Ingrid E; Berkovic, Samuel F; Gecz, Jozef.
Afiliación
  • Shaw M; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia.
  • Winczewska-Wiktor A; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.
  • Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Koirala S; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Central Department of Biotechnology, Tribhuvan University, Kathmandu, Nepal.
  • Gardner A; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia.
  • Kuszel L; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Kowal P; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
  • Steinborn B; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.
  • Starczewska M; Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.
  • Garry S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, VIC, Australia.
  • Scheffer IE; Departments of Medicine and Paediatrics, The University of Melbourne, Austin Health and Royal Children's Hospital and Florey Institute, Victoria, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, VIC, Australia.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Melbourne, VIC, Australia.
  • Gecz J; Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Insti
Eur J Med Genet ; 63(4): 103799, 2020 Apr.
Article en En | MEDLINE | ID: mdl-31655144
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Sueño-Vigilia / Epilepsia del Lóbulo Frontal / Mutación Missense / ATPasas de Translocación de Protón Vacuolares / Exoma / Enfermedades de las Encías / Discapacidad Intelectual / Enfermedades de la Uña Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Australia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Sueño-Vigilia / Epilepsia del Lóbulo Frontal / Mutación Missense / ATPasas de Translocación de Protón Vacuolares / Exoma / Enfermedades de las Encías / Discapacidad Intelectual / Enfermedades de la Uña Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Australia