SARAH ELSEA to Spasms, Infantile
This is a "connection" page, showing publications SARAH ELSEA has written about Spasms, Infantile.
Connection Strength
0.458
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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. Am J Med Genet A. 2022 12; 188(12):3516-3524.
Score: 0.187
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LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. Am J Med Genet A. 2018 05; 176(5):1184-1189.
Score: 0.139
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Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 08; 121(4):314-319.
Score: 0.131