ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Pooled it
- Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.Neurology. Genetics · 2025Article
- An interdisciplinary fetal neonatal neurology collaborative promotes integrative life-course brain health.Frontiers in neurology · 2025Review
- Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.Clinical genetics · 2024Article
- Genetic and Congenital Anomalies in Infants With Hypoxic-Ischemic Encephalopathy.Pediatric neurology · 2024Article
- Newly discovered variants in unexplained neonatal encephalopathy.Molecular genetics & genomic medicine · 2024Article
- Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21.Children (Basel, Switzerland) · 2023Article
- GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.Epilepsy & behavior reports · 2023Article
- Comparative Proteomic Characterization of Ventral Hippocampus in Susceptible and Resilient Rats Subjected to Chronic Unpredictable Stress.Frontiers in neuroscience · 2021Article
- Neuromonitoring in Neonatal-Onset Epileptic Encephalopathies.Frontiers in neurology · 2021Review
- EEG Monitoring of the Epileptic Newborn.Current neurology and neuroscience reports · 2020Review
- Systematic comparison of somatic variant calling performance among different sequencing depth and mutation frequency.Scientific reports · 2020Article
- Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.Epilepsia · 2019Article
- BiallelicJournal of central nervous system disease · 2019Article
- Precision in pediatric epilepsy.F1000Research · 2019Review
- Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.PloS one · 2019Article
- Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.Journal of inherited metabolic disease · 2018Review
- Pediatric Palliative Care in Infants and Neonates.Children (Basel, Switzerland) · 2018Review
- Emerging Monogenic Complex Hyperkinetic Disorders.Current neurology and neuroscience reports · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA.ResultsNineteen patients fulfilling inclusion criteria were enrolled. Five patients were excluded owing to withdrawal of consent, no parental DNA samples, or a genetic diagnosis prior to WES. Fourteen patients underwent WES. We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage. It will increase our understanding and probably enable us to develop targeted neuroprotective treatment strategies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.