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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle
Matthew N. Bainbridge
,
Erin Cooney
, Marcus Miller
, Adam D. Kennedy
, Jacob E. Wulff
, Taraka Donti
, Shalini N. Jhangiani
, Richard A. Gibbs
, Sarah H. Elsea
, Brenda E. Porter
, Brett H. Graham
Research output
:
Contribution to journal
›
Article
›
peer-review
50
Scopus citations
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Keyphrases
Epilepsy Patients
100%
Tricarboxylic Acid Cycle (TCA cycle)
100%
SLC13A5
100%
Citrate
50%
Metabolism
25%
Mass Spectrometry
25%
Dysregulation
25%
Dysregulated
25%
Missense mutation
25%
Metabolic Profiling
25%
Psychomotor Retardation
25%
Nonsense mutation
25%
Citric Acid Cycle
25%
Metabolic Compartmentation
25%
Rare mutation
25%
Metabolic Signature
25%
Infantile Epileptic Encephalopathy
25%
Global Developmental Delay
25%
Neonatal Onset Seizures
25%
Biochemistry, Genetics and Molecular Biology
Citric Acid Cycle
100%
Blood Plasma
50%
Metabolic Pathway
25%
Mass Spectrometry
25%
Missense Mutation
25%
Nonsense Mutation
25%
Pharmacology, Toxicology and Pharmaceutical Science
Tricarboxylic Acid
100%
Brain Disease
33%
Psychomotor Retardation
33%
Developmental Delay
33%
Diseases
33%