Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer, Peter D; Ganesan, Shiva; Lewis-Smith, David; McKeown, Sarah E; Pendziwiat, Manuela; Helbig, Katherine L; Ellis, Colin A; Rademacher, Annika; Smith, Lacey; Poduri, Annapurna; Seiffert, Simone; von Spiczak, Sarah; Muhle, Hiltrud; van Baalen, Andreas; Thomas, Rhys H; Krause, Roland; Weber, Yvonne; Helbig, Ingo

Galer, Peter D; Ganesan, Shiva; Lewis-Smith, David; McKeown, Sarah E; Pendziwiat, Manuela; Helbig, Katherine L; Ellis, Colin A; Rademacher, Annika; Smith, Lacey; Poduri, Annapurna; Seiffert, Simone; von Spiczak, Sarah; Muhle, Hiltrud; van Baalen, Andreas; Thomas, Rhys H; Krause, Roland; Weber, Yvonne; Helbig, Ingo.

Afiliação

Galer PD; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Phila
Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Phila
Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE1 7RU, UK; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK.
McKeown SE; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Pendziwiat M; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Phila
Ellis CA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Rademacher A; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Smith L; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Seiffert S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.
von Spiczak S; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany; DRK-Northern German Epilepsy Centre for Children and Adolescents, 24223 Schwentinental-Raisdorf, Germany.
Muhle H; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
van Baalen A; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.
Thomas RH; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne NE1 7RU, UK; Royal Victoria Infirmary, Newcastle-upon-Tyne NE1 4LP, UK.
Krause R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 4367 Belvaux, Luxembourg.
Weber Y; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Department of Epileptology and Neurology, University of Aachen, 52074 Aachen, Germany.
Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Phila

Am J Hum Genet ; 107(4): 683-697, 2020 10 01.

Article em En | MEDLINE | ID: mdl-32853554

Assuntos

Proteínas da Membrana Plasmática de Transporte de GABA/genética; Proteínas Munc18/genética; Canal de Sódio Disparado por Voltagem NAV1.1/genética; Convulsões/genética; Espasmos Infantis/genética; Distúrbios da Fala/genética; Pré-Escolar; Estudos de Coortes; Feminino; Expressão Gênica; Ontologia Genética; Humanos; Masculino; Mutação; Fenótipo; Convulsões/classificação; Convulsões/diagnóstico; Convulsões/fisiopatologia; Semântica; Canais de Potássio Shab/genética; Espasmos Infantis/classificação; Espasmos Infantis/diagnóstico; Espasmos Infantis/fisiopatologia; Distúrbios da Fala/classificação; Distúrbios da Fala/diagnóstico; Distúrbios da Fala/fisiopatologia; Terminologia como Assunto; Sequenciamento do Exoma

Palavras-chave

Human Phenotype Ontology; childhood epilepsies; computational phenotypes; developmental and epileptic encephalopathies; electronic medical records; neurogenetic disorders; whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 1_ASSA2030 Problema de saúde: 1_sistemas_informacao_saude Assunto principal: Convulsões / Espasmos Infantis / Distúrbios da Fala / Proteínas da Membrana Plasmática de Transporte de GABA / Proteínas Munc18 / Canal de Sódio Disparado por Voltagem NAV1.1 Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2020 Tipo de documento: Article

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