Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

Jackson, Adam; Banka, Siddharth; Stewart, Helen; Robinson, Hannah; Lovell, Simon; Clayton-Smith, Jill

Jackson, Adam; Banka, Siddharth; Stewart, Helen; Robinson, Hannah; Lovell, Simon; Clayton-Smith, Jill.

Jackson A; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Banka S; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Stewart H; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
Robinson H; Genomics England, London, UK.
Lovell S; Department of Peninsula Clinical Genetics, Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Clayton-Smith J; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.

Am J Med Genet A ; 185(10): 3083-3091, 2021 10.

Article en En | MEDLINE | ID: mdl-34061450

Asunto(s)

Epilepsia/genética; Hipertricosis/genética; Discapacidad Intelectual/genética; Megalencefalia/genética; Canales de potasio activados por Sodio/genética; Adolescente; Arginina/genética; Niño; Preescolar; Epilepsia/diagnóstico; Epilepsia/patología; Femenino; Predisposición Genética a la Enfermedad; Humanos; Hipertricosis/diagnóstico; Hipertricosis/diagnóstico por imagen; Hipertricosis/patología; Discapacidad Intelectual/diagnóstico por imagen; Discapacidad Intelectual/patología; Megalencefalia/diagnóstico por imagen; Megalencefalia/patología; Anomalías Musculoesqueléticas/genética; Anomalías Musculoesqueléticas/patología; Mutación Missense/genética; Fenotipo

Palabras clave

KCNT2; dysmorphism; epileptic encephalopathy; intellectual disability; potassium channel; sequencing

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Megalencefalia / Canales de potasio activados por Sodio / Hipertricosis / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans Idioma: En Año: 2021 Tipo del documento: Article

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