Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy ; volume:7 ; number:12 ; year:2015 ; pages:1580-1594 ; extent:15
EMBO molecular medicine / European Molecular Biology Organization ; 7, Heft 12 (2015), 1580-1594 (gesamt 15)
- Creator
-
Dejanovic, Borislav
Djémié, Tania
Grünewald, Nora
Suls, Arvid
Kress, Vanessa
Hetsch, Florian
Craiu, Dana
Zemel, Matthew
Gormley, Padhraig
Lal, Dennis
Myers, Candace T.
Mefford, Heather C.
Palotie, Aarno
Helbig, Ingo
Meier, Jochen C.
De Jonghe, Peter
Weckhuysen, Sarah
Schwarz, Guenter
- DOI
-
10.15252/emmm.201505323
- URN
-
urn:nbn:de:101:1-2022112405384578133302
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:25 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Dejanovic, Borislav
- Djémié, Tania
- Grünewald, Nora
- Suls, Arvid
- Kress, Vanessa
- Hetsch, Florian
- Craiu, Dana
- Zemel, Matthew
- Gormley, Padhraig
- Lal, Dennis
- Myers, Candace T.
- Mefford, Heather C.
- Palotie, Aarno
- Helbig, Ingo
- Meier, Jochen C.
- De Jonghe, Peter
- Weckhuysen, Sarah
- Schwarz, Guenter
Other Objects (12)
Epileptic encephalopathy due to GLUT1 deficiency: a case report
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Structural and biochemical characterization of gephyrin and various gephyrin-ligand complexes : = Strukturelle und biochemische Charakterisierung von Gephyrin und verschiedenen Gephyrin-Liganden-Komplexen
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
Structural and biochemical characterization of gephyrin and various gephyrin-ligand complexes
Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review
Perinatal Hypoxic-Ischemic Encephalopathy: epileptic and paretic outcome at one year of age
Epileptic encephalopathy due to GLUT1 deficiency: a case report
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Structural and biochemical characterization of gephyrin and various gephyrin-ligand complexes : = Strukturelle und biochemische Charakterisierung von Gephyrin und verschiedenen Gephyrin-Liganden-Komplexen
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
Structural and biochemical characterization of gephyrin and various gephyrin-ligand complexes
Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review
Perinatal Hypoxic-Ischemic Encephalopathy: epileptic and paretic outcome at one year of age
Epileptic encephalopathy due to GLUT1 deficiency: a case report
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Structural and biochemical characterization of gephyrin and various gephyrin-ligand complexes : = Strukturelle und biochemische Charakterisierung von Gephyrin und verschiedenen Gephyrin-Liganden-Komplexen
Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy
Structural and biochemical characterization of gephyrin and various gephyrin-ligand complexes
Epileptic and developmental encephalopathy 14 associated with KNCT1 gene mutation: a case report
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review