Two <i>de novo</i> GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.

Kellner, Shai; Abbasi, Abeer; Carmi, Ido; Heinrich, Ronit; Garin-Shkolnik, Tali; Hershkovitz, Tova; Giladi, Moshe; Haitin, Yoni; Johannesen, Katrine M; Steensbjerre Møller, Rikke; Berlin, Shai

Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.

Kellner, Shai; Abbasi, Abeer; Carmi, Ido; Heinrich, Ronit; Garin-Shkolnik, Tali; Hershkovitz, Tova; Giladi, Moshe; Haitin, Yoni; Johannesen, Katrine M; Steensbjerre Møller, Rikke; Berlin, Shai.

Afiliación

Kellner S; Department of Neuroscience, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Abbasi A; Department of Neuroscience, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Carmi I; Department of Neuroscience, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Heinrich R; Department of Neuroscience, Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Garin-Shkolnik T; Clalit health services, Tel Aviv, Israel.
Hershkovitz T; Genetics Institute, Rambam medical center, Haifa, Israel.
Giladi M; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Haitin Y; Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Johannesen KM; Department of Epilepsy Genetics and Personalized Treatment, the Danish Epilepsy Centre, Dianalund, Denmark.
Steensbjerre Møller R; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
Berlin S; Department of Epilepsy Genetics and Personalized Treatment, the Danish Epilepsy Centre, Dianalund, Denmark.

Elife ; 102021 07 02.

Article en En | MEDLINE | ID: mdl-34212862

Asunto(s)

Encefalopatías/genética; Ácido Glutámico/metabolismo; Mutación Missense; Receptores de N-Metil-D-Aspartato/genética; Niño; Preescolar; Células HEK293; Humanos; Lactante; Receptores de N-Metil-D-Aspartato/metabolismo; Sinapsis/metabolismo

Palabras clave

GRIN; de novo mutation; encephalopathy; human; ligand binding domain; loss of function; medicine; neurons; neuroscience; xenopus

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encefalopatías / Receptores de N-Metil-D-Aspartato / Ácido Glutámico / Mutación Missense Límite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Elife Año: 2021 Tipo del documento: Article País de afiliación: Israel

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