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Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.
Lewis-Smith, David; Ganesan, Shiva; Galer, Peter D; Helbig, Katherine L; McKeown, Sarah E; O'Brien, Margaret; Khankhanian, Pouya; Kaufman, Michael C; Gonzalez, Alexander K; Felmeister, Alex S; Krause, Roland; Ellis, Colin A; Helbig, Ingo.
Affiliation
  • Lewis-Smith D; Translational and Clinical Research Institute, Newcastle University, Newcastle-upon-Tyne, UK. david.lewis-smith@newcastle.ac.uk.
  • Ganesan S; Department of Clinical Neurosciences, Royal Victoria Infirmary, Newcastle-upon-Tyne, UK. david.lewis-smith@newcastle.ac.uk.
  • Galer PD; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA. david.lewis-smith@newcastle.ac.uk.
  • Helbig KL; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA. david.lewis-smith@newcastle.ac.uk.
  • McKeown SE; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • O'Brien M; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Khankhanian P; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Kaufman MC; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Gonzalez AK; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Felmeister AS; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Krause R; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Ellis CA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Eur J Hum Genet ; 29(11): 1690-1700, 2021 11.
Article in En | MEDLINE | ID: mdl-34031551
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Spasms, Infantile / Genetic Testing / Genetic Heterogeneity Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Reino Unido
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Spasms, Infantile / Genetic Testing / Genetic Heterogeneity Type of study: Diagnostic_studies / Guideline / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Reino Unido