PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Kolc, Kristy L; Møller, Rikke S; Sadleir, Lynette G; Scheffer, Ingrid E; Kumar, Raman; Gecz, Jozef

Kolc, Kristy L; Møller, Rikke S; Sadleir, Lynette G; Scheffer, Ingrid E; Kumar, Raman; Gecz, Jozef.

Afiliación

Kolc KL; Adelaide Medical School, the University of Adelaide, Adelaide, SA, Australia.
Møller RS; Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.
Sadleir LG; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark.
Scheffer IE; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.
Kumar R; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.
Gecz J; Department of Medicine, Epilepsy Research Centre, The University of Melbourne, Austin Health, Melbourne, VIC, Australia.

Adv Exp Med Biol ; 1298: 177-187, 2020.

Article en En | MEDLINE | ID: mdl-32852734

Asunto(s)

Cadherinas/genética; Epilepsia; Adolescente; Adulto; Anciano; Niño; Preescolar; Epilepsia/genética; Femenino; Humanos; Masculino; Persona de Mediana Edad; Mosaicismo; Mutación; Penetrancia; Protocadherinas; Adulto Joven

Palabras clave

Epilepsy; Mosaic; Neuropsychiatric; PCDH19; Pathogenic variant

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cadherinas / Epilepsia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Adv Exp Med Biol Año: 2020 Tipo del documento: Article País de afiliación: Australia

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