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A disease concept model for STXBP1-related disorders.
Sullivan, Katie R; Ruggiero, Sarah M; Xian, Julie; Thalwitzer, Kim M; Ali, Rahma; Stewart, Sydni; Cosico, Mahgenn; Steinberg, Jackie; Goss, James; Pfalzer, Anna C; Horning, Kyle J; Weitzel, Nicole; Corey, Sydney; Conway, Laura; Rigby, Charlene Son; Bichell, Terry Jo; Helbig, Ingo.
Afiliación
  • Sullivan KR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ruggiero SM; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Xian J; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Thalwitzer KM; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Ali R; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Stewart S; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Cosico M; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Steinberg J; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Goss J; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Pfalzer AC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Horning KJ; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Weitzel N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Corey S; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Conway L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Rigby CS; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bichell TJ; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Helbig I; STXBP1 Foundation, Apex, Holly Springs, North Carolina, USA.
Epilepsia Open ; 8(2): 320-333, 2023 06.
Article en En | MEDLINE | ID: mdl-36625631

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsia / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Qualitative_research Límite: Humans Idioma: En Revista: Epilepsia Open Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Epilepsia / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Qualitative_research Límite: Humans Idioma: En Revista: Epilepsia Open Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos