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Paper Details

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.
Genetics in Medicine
29
2018
Asn211Ser, Asp212Tyr, CUL4B, GNAO1, Gly40Arg, His236Gln, KCNQ2, LIAS, Met1545Val, SCN2A, brain damage, encephalopathy, epileptic encephalopathy, genetic defects, lipoic acid, lipoic acid synthetase, lipoic acid synthetase deficiency, neonatal encephalopathy, parental DNA samples, parents' DNA, patient, patients, perinatal asphyxia, seizures
Author NameAffiliation
Christian R MarshallResearch Institute, The Hospital for Sick Children
Christian R MarshallThe Hospital for Sick Children
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Release 1.2