- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
-
Epileptic encephalopathy due to GLUT1 deficiency: a case report ; volume:81 ; number:S 01 ; year:2023 ; 01
Konferenz: SBN Conference 2022; 2022-11-09; Expo United Curitiba
Arquivos de neuro-psiquiatria ; 81, Heft S 01 (2023), 01
- Contributor
-
Caram, Mariana Reis
Reinehr, Marcelo Vitória
Barbosa, Emanuele Fonseca
Soncini, Luize Costa
Santin, Maria Helena Romano
Müller, Ísis Feldens
Maia, Juliana Costa
Magalhães, Luiza Vieira da Silva
Lorea, Cláudia Fernandes
- DOI
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10.1055/s-0043-1774534
- URN
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urn:nbn:de:101:1-2023110211202627051360
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:48 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
- Caram, Mariana Reis
- Reinehr, Marcelo Vitória
- Barbosa, Emanuele Fonseca
- Soncini, Luize Costa
- Santin, Maria Helena Romano
- Müller, Ísis Feldens
- Maia, Juliana Costa
- Magalhães, Luiza Vieira da Silva
- Lorea, Cláudia Fernandes
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Epileptic Encephalopathy due to CACNA1A Variant: A Case Report and Diagnostic Challenges from Resource-Limited Settings
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Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report
Carnitine deficiency in epileptic children treated with a diversity of anti-epileptic regimens
Total intravenous anesthesia in GLUT1 deficiency syndrome patient : a case report
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Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
Epileptic Encephalopathy due cyclin-dependent kinase type 5 (CDKL5) gene changes: a case report
Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
Epileptic Encephalopathy due to CACNA1A Variant: A Case Report and Diagnostic Challenges from Resource-Limited Settings
Human genetic GLUT1 deficiency results in impaired T cellular IFN-γ production : = Human genetic GLUT1 deficiency results in impaired T cellular IFN-[gamma] production
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report
Carnitine deficiency in epileptic children treated with a diversity of anti-epileptic regimens
Total intravenous anesthesia in GLUT1 deficiency syndrome patient : a case report
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
Epileptic Encephalopathy due cyclin-dependent kinase type 5 (CDKL5) gene changes: a case report
Mechanistic Insights into Protein Stability and Self-aggregation in GLUT1 Genetic Variants Causing GLUT1-Deficiency Syndrome
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
Epileptic Encephalopathy due to CACNA1A Variant: A Case Report and Diagnostic Challenges from Resource-Limited Settings
Human genetic GLUT1 deficiency results in impaired T cellular IFN-γ production : = Human genetic GLUT1 deficiency results in impaired T cellular IFN-[gamma] production
SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy
Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report
Carnitine deficiency in epileptic children treated with a diversity of anti-epileptic regimens
Total intravenous anesthesia in GLUT1 deficiency syndrome patient : a case report
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy
Epileptic and developmental encephalopathy associated with GABRA1 gene mutation: case report