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The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
Martinez-Esteve Melnikova, Anastasia; Pijuan, Jordi; Aparicio, Javier; Ramírez, Alia; Altisent-Huguet, Anna; Vilanova-Adell, Alba; Arzimanoglou, Alexis; Armstrong, Judith; Palau, Francesc; Hoenicka, Janet; San Antonio-Arce, Victoria.
Affiliation
  • Martinez-Esteve Melnikova A; Epilepsy Department, Member of the ERN EpiCARE, Sant Joan de Déu Hospital, Barcelona, Spain. Electronic address: a.dayer@outlook.com.
  • Pijuan J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Sant Joan de Déu Research Institute, Barcelona, Spain; Rare Diseases Network Biomedical Research Center (CIBERER), Barcelona, Spain.
  • Aparicio J; Epilepsy Department, Member of the ERN EpiCARE, Sant Joan de Déu Hospital, Barcelona, Spain.
  • Ramírez A; Epilepsy Department, Member of the ERN EpiCARE, Sant Joan de Déu Hospital, Barcelona, Spain.
  • Altisent-Huguet A; Laboratory of Neurogenetics and Molecular Medicine - IPER, Sant Joan de Déu Research Institute, Barcelona, Spain.
  • Vilanova-Adell A; Laboratory of Neurogenetics and Molecular Medicine - IPER, Sant Joan de Déu Research Institute, Barcelona, Spain.
  • Arzimanoglou A; Epilepsy Department, Member of the ERN EpiCARE, Sant Joan de Déu Hospital, Barcelona, Spain; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.
  • Armstrong J; Department of Genetic Medicine - IPER, Sant Joan de Déu Hospital, Barcelona, Spain.
  • Palau F; Laboratory of Neurogenetics and Molecular Medicine - IPER, Sant Joan de Déu Research Institute, Barcelona, Spain; Rare Diseases Network Biomedical Research Center (CIBERER), Barcelona, Spain; Department of Genetic Medicine - IPER, Sant Joan de Déu Hospital, Barcelona, Spain; Clinic Institute of Medi
  • Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Sant Joan de Déu Research Institute, Barcelona, Spain; Rare Diseases Network Biomedical Research Center (CIBERER), Barcelona, Spain.
  • San Antonio-Arce V; Epilepsy Department, Member of the ERN EpiCARE, Sant Joan de Déu Hospital, Barcelona, Spain; Freiburg Epilepsy Center, University of Freiburg Medical Center, Member of the ERN EpiCARE, And Faculty of Medicine, University of Freiburg, Germany.
Eur J Med Genet ; 65(3): 104442, 2022 Mar.
Article in En | MEDLINE | ID: mdl-35093607
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy Type of study: Diagnostic_studies / Etiology_studies Limits: Child / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy Type of study: Diagnostic_studies / Etiology_studies Limits: Child / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Country of publication: