Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

Symonds, Joseph D; Joss, Shelagh; Metcalfe, Kay A; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J; Lampe, Anne K; Lees, Melissa M; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P; Zuberi, Sameer M

Symonds, Joseph D; Joss, Shelagh; Metcalfe, Kay A; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J; Lampe, Anne K; Lees, Melissa M; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P; Zuberi, Sameer M.

Afiliação

Symonds JD; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, United Kingdom.
Joss S; School of Medicine, University of Glasgow, Glasgow, United Kingdom.
Metcalfe KA; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom.
Somarathi S; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Cruden J; Division of Evolution and Genomic sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Devlin AM; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
Donaldson A; Department of Paediatrics, Victoria Infirmary, Kirkcaldy, United Kingdom.
DiDonato N; Paediatric Neurology, Great North Children's Hospital, Newcastle Acute Hospitals NHS Trust, Newcastle-upon-Tyne, United Kingdom.
Fitzpatrick D; University of Bristol, Bristol, United Kingdom.
Kaiser FJ; Institute for Clinical Genetics, TU Dresden, Dresden, Germany.
Lampe AK; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Lees MM; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
McLellan A; South East Scotland Clinical Genetic Service, Edinburgh, United Kingdom.
Montgomery T; Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.
Mundada V; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Edinburgh, United Kingdom.
Nairn L; Institute of Genetic Medicine, Newcastle-upon-Tyne, United Kingdom.
Sarkar A; Paediatric Neurology Royal London Hospital, London, United Kingdom.
Schallner J; Department of Paediatrics, Royal Alexandra Hospital, Paisley, United Kingdom.
Pozojevic J; Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.
Parenti I; Carl Gustav Carus Hospital, at the TU Dresden, Dresden, Germany.
Tan J; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
Turnpenny P; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
Whitehouse WP; Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
Zuberi SM; Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom.

Epilepsia ; 58(4): 565-575, 2017 04.

Article em En | MEDLINE | ID: mdl-28166369

Assuntos

Proteínas de Ciclo Celular/genética; Proteínas Cromossômicas não Histona/genética; Epilepsia/genética; Mutação/genética; Convulsões/genética; Criança; Pré-Escolar; Eletroencefalografia; Epilepsia/complicações; Feminino; Heterozigoto; Humanos; Masculino; Convulsões/complicações

Palavras-chave

SMC1A; Cluster; Epilepsy; Females; Intellectual disability; X-linked

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Convulsões / Proteínas Cromossômicas não Histona / Proteínas de Ciclo Celular / Epilepsia / Mutação Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Epilepsia Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google