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De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity.
Johannesen, Katrine M; Gardella, Elena; Ahring, Philip K; Møller, Rikke S.
Affiliation
  • Johannesen KM; Department of Genetics, Rigshospitalet, Copenhagen, Denmark; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark. Electronic address: katrine.johannesen@regionh.dk.
  • Gardella E; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark.
  • Ahring PK; Brain and Mind Centre, School of Pharmacy, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Møller RS; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.
Eur J Med Genet ; 65(10): 104577, 2022 Oct.
Article in En | MEDLINE | ID: mdl-35918039
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Epilepsy Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Country of publication: Países Bajos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy, Generalized / Epilepsy Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Country of publication: Países Bajos