The Study Details table contains information on scientific publications which have identified genetic variants associated with NESHIE and consequential CP. To navigate to the results of a particular study, click on the study name. To view the original publication from which this data has been sourced, click on the publication Digital Object Identifier (DOI).
| Study | DOI | Population description | Regional classification | Sequencing or genotyping methods |
|---|---|---|---|---|
| Calkavur et al., 2011 | 10.1177/147323001103900517 | Turkish; 40 infants with HIE and 429 adult controls | Europe | Genotyping using polymerase chain reaction-restriction fragment length polymorphism assay (IL6 gene) and allele-specific polymerase chain reaction (TNF gene) |
| Chen et al., 2019 | 10.26355/eurrev_201903_17266 | Chinese; 96 neonates with HIE and 123 control neonates | East Asia | Genotyping using TaqMan-minor groove binder (MGB) probes |
| Esih et al., 2021 | 10.3390/antiox10010096 | Slovenian; 44 HIE babies with moderate to severe (n = 18) and normal to mild magnetic resonance imaging findings (n = 26) | Europe | Genotyping using fluorescent-based competitive allele-specific polymerase chain reaction assay |
| Harteman et al., 2013 | 10.1038/pr.2012.150 | Netherlands; 118 infants with clinical signs of NE following perinatal HIE | Europe | Genotyping using amplication and polymerase chain reaction analysis |
| Kuzmanic Samija et al., 2011 | 10.3325%2Fcmj.2011.52.396 | Croatian; 110 unrelated term or preterm born children (69 boys and 41 girls) with HIE and 128 term and preterm born children (60 boys and 68 girls) without any neurological problems after the second year of life (control group) | Europe | Genotyping conducted using real- time polymerase chain reaction using an ABIPRISM 7500 Sequence Detection system |
| Kuzmanic Samija et al., 2014 | 10.1590/1414-431x20143938 | Croatian; 80 children with HIE, 30 children with HIE and intracranial hemorrhage and 128 control children | Europe | Genotyping conducted using real- time polymerase chain reaction using an ABIPRISM 7500 Sequence Detection system |
| Wu et al., 2016 | 10.1155/2016/1957374 | Han Chinese; 226 children with HIE and 212 healthy children | East Asia | Polymerase chain reaction amplification of gene followed by sequencing of amplified product |
| Gabriel et al., 2016 | 10.2147/JIR.S103697 | Brazilian; 50 preterm and term newborns with HIE and PVL and 50 controls | America | Genotyping using polymerase chain reaction-restriction fragment length polymorphism methods |
| van Eyk et al., 2019 | 10.1038/s41525-019-0101-z | Australian; 366 CP cases including 271 cases previously tested by whole exome sequencing by McMichael et al., 2015 | Oceania | Next generation sequencing using a custom gene panel of 112 candidate genes |
| Esih et al., 2016 | 10.1016/j.ejpn.2016.05.018 | Slovenian; 80 patients previously diagnosed with perinatal HIE were included. | Europe | Genotyping using TaqMan single nucleotide polymorphism genotyping assays or KBioscience's competitive allele-specific PCR amplification of target sequences and endpoint fluorescence genotyping(KASPar) assay |
| McMichael et al., 2015 | 10.1038/mp.2014.189 | Australian, Caucasian; 98 CP case and parent trios and 67 duos | Oceania | Whole exome sequencing |
| Sun et al., 2019 | 10.1007/s12017-018-8510-1 | Han Chinese; 763 CP infants and 738 controls | East Asia | Genotyping using MassARRAY single nucleotide polymorphism platform |
| Torres-Merino et al., 2019 | 10.1007/s12035-018-1178-6 | Mexican; 48 patients with a history of perinatal asphyxia, low Apgar score (< 7 at 5 min), stage II or III Sarnat score in the neonatal period, and no records of chorioamnionitis or maternal infection and 57 control children | America | Polymerase chain reaction amplification of gene regions followed by polymerase chain reaction-RFLP assay for rs16944 polymorphism. Validation of rs16944 polymorphism using a TaqMan allelic discrimination test. |
| Wang et al., 2013 | 10.1007/s11033-013-2761-6 | Han Chinese; 517 patients with CP and 502 healthy controls | East Asia | Genotyping using Sequenom MassARRAY single nucleotide polymorphism platform |
| van Eyk et al., 2021 | 10.1038/s41525-021-00238-0 | Australian (Caucasian), 150 CP cases (18 trios, 76 duos, 56 singletons) | East Asia | Polymerase chain reaction-free whole genome sequencing |
| May et al., 2021 | 10.1111/dmcn.14948 | Asian, Hispanic, Caucasian; (Participants from clinical genetics and neurology clinics in New York Presbyterian Hospital and Columbia University Irving Medical Centre; 151 unrelated individuals with CP | East Asia, America, Europe | Whole exome sequencing |
| Bi et al., 2014 | 10.1186/1742-2094-11-100 | Han Chinese; 713 CP, 753 healthy controls | East Asia | Genotyping using Sequenom MassARRAY single nucleotide polymorphism platform |
| Bi et al., 2016 | 10.1111/cge.12723 | Han Chinese; 351 CP patients and 220 healthy controls | East Asia | Genotyping of candidate single nucleotide polymorphisms using the MassARRAY system |
| Cheng et al., 2011 | 10.1038/jhg.2010.127 | Han Chinese; 159 CP patients (43 with mental retardation) and 169 controls matched for age, sex and ethnicity | East Asia | Genotyping using the ABI 7900 DNA detection system and TaqMan technology |
| Hou et al., 2016 | 10.1007/s12035-015-9566-7 | Chinese; 105 CP patients and 114 age-, gender-, and ethnicity-matched healthy controls | East Asia | Genotyping using TaqMan allelic discrimination assay |
| Jin et al., 2020 | 10.1038/s41588-020-0695-1 | European, Indian, Mexican, East Asian; 159 CP cases (132 idiopathic, 24 environmental and 3 unclassified) and their unaffected parents were recruited via Phoenix Children’s Hospital (PCH), the University of Adelaide and Zhengzhou City Children’s Hospital. | Europe, America, East Asia, South Asia | Whole exome sequencing |
| Khankhanian et al., 2013 | 10.1186/1471-2350-14-126 | African American (26/22 = Cases/Controls), Asian (26/47), Hispanic (48/51), white (138/163), and others including mixed and unknown (12/22); 250 infants with CP and 305 randomly selected control infants born at > = 36 weeks gestation | America, East Asia, Africa, Europe | Sanger sequencing of gene regions |
| Moreno-De-Luca et al., 2021 | 10.1001/jama.2020.26148 | American; Two cohorts: clinical laboratory referral cohort: 1345 CP patient (1009 parent-offspring trios) and health care-based cohort: 1181 CP patients (no parental samples) | America | Whole exome sequencing to identify genetic variants present in two cohorts. |
| Wu et al., 2011 | 10.1111/j.1469-8749.2010.03884.x | Chinese; 2533 CP cases and 4432 controls from 11 studies | East Asia | Meta-analysis of 17 polymorphisms previously identified by other CP studies |
| Chen et al., 2013 | 10.1016/j.cyto.2013.01.011 | Han Chinese; total of 542 CP patients and 483 healthy control children | East Asia | Amplification of polymorphism-spanning fragments by multi-plex polymerase chain reaction. Genotyping of amplified regions using the Sequenom MassArray single nucleotide polymorphism genotyping platform |
| Xia et al., 2018 | 10.3389%2Ffneur.2018.00182 | Han Chinese; A total of 282 CP patients and 197 healthy controls | East Asia | Genotyping using MassARRAY single nucleotide polymorphism platform |
| Gibson et al., 2008 | 10.1542/peds.2007-3758 | Australian; 443 children with CP and 883 children without CP | Oceania | Genotyping using a TaqMan single nucleotide polymorphism assay |
| Mei et al., 2021 | 10.1016/j.jpeds.2021.11.019 | Not stated; 217 patients with CP recruited from Children's Hospital of Fudan University | Not specified | Clinical exome sequencing of 83 patients (11 trios and 72 singletons) and whole exome sequencing of 134 patients (133 trios and 1 singleton) |
| Chopra et al., 2022 | 10.1002/acn3.51506 | Caucasian (33), African American (3), Asian (4), Other (2), Unknown (7); 50 participants from the Boston Children's Hospital CP Sequencing Study (2 quads, 26 trios, 18 duos, 3 probands, 1 other) | Africa, East Asia, Europe | Whole exome sequencing |
| Gibson et al., 2006 | 10.1016/j.ajog.2006.01.093 | Causasian; 448 children with CP born in South Australia from the South Australian Cerebral Palsy Register and 883 controls | Oceania | Genotyping of MBL gene polymorphisms using heteroduplex genotyping methods. Genotyping of TNF gene polymorphisms using amplification refractory mutation system-polymerase chain reaction genotyping methods |
| Matthews et al., 2019 | 10.1038/s41436-018-0376-y | Caucasian (European, Romanian, North European, Bulgarian, French), Asian (Chinese,Filippino, Malaysian), Middle Eastern (Iraq, Iran, Afghanistan, Saudi-Arab, Pakastani), African (Sudan, Somali), Mixed, Ashkenazi, First Nations, Greek, Latin American; 50 patients with atypical presentations of CP recruited from three tertiary centers in Canada | Europe, Africa, East Asia, South Asia | Next generation sequencing (exome sequencing) |
| Wu et al., 2009 | 10.1002/ana.21766 | Caucasian, African, Hispanic, Asian, Other; 250 infants with CP in the Kaiser Medical Care Programme of Northern California and 652 controls | Europe, Africa, America, East Asia | Amplification of gene DNA and genotyping using polymerase-chain reaction based methods |
| Gibson et al., 2005 | 10.1016/j.ajog.2005.02.107 | Australian (Caucasian); 443 children with CP and 883 children without CP | Oceania | PCR amplification of the polymorphic regions, determination of the polymorphic bases using a ABI Prism SNaPshot Multiplex Kit, analysis of products on a DNA sequencer (ABI 3700) |
| Gibson et al., 2007 | 10.1097/01.AOG.0000252712.62241.1A | Australian (Caucasian); 443 children with CP and 883 children without CP | Oceania | Genotyping using a TaqMan single nucleotide polymorphism assay |
| Kremer and Grosso, 2004 | 10.1111/j.1399-0004.2004.00373.x | Argentine; 11 Argentine patients diagnosed with HIE and their mothers, 8 siblings and 9 fathers, 85 Argentine controls of mixed ancestry | America | Genotyping using polymerase chain reaction-restriction fragment length polymorphism methods |
| Pingel et al., 2018 | 10.1002/ajmg.b.32693 | Not stated; 44 individuals with CP and 4 healthy control participants | Not specified | Next generation sequencing of exon and untranslated regions of 96 candidate genes |
| Esih et al., 2021_2 | 10.3390/antiox10091495 | Slovenian; 43 newborns with moderate and severe HIE registered in the electronic database of the neonatal intensive care unit at the University Children’s Hospital Ljubljana | Europe | Genotyping using fluorescent-based competitive allele-specific polymerase chain reaction assay |
| Parobek et al., 2024 | 10.1111/cge.14522 | America; 24 retrospective HIE cases from the Baylor Genetics and Texas Children's Hospital databases | America | Whole exome sequencing (n=23), whole genome sequencing (n=1) |
| Pavlov, et al., 2023 | 10.3390/biomedicines11102795 | Croatian; 132 retrospective HIE cases treated at the University Hospital Split, Children’s Hospital, Department for Gynecology and Obstetrics, and Department of Neonatology | Europe | Genotyping using a real-time TaqMan polymerase chain reaction assay |
| Woodward et al., 2023 | 10.1177/08830738221147805 | Canadian; 28 retrospective HIE cases treated at 2 level 3 neonatal intensive care units in Canada | America | Whole exome sequencing (n=6), microarray (n=23), epilepsy-screening panel developed by Blueprint Genetics consisting of 416 genes (n=11) |
| Pavelekova et al., 2023 | 10.1016/j.parkreldis.2023.105352 | Czech and Slovakian; 70 patients diagnosed with CP and 52 patients diagnosed with a CP-like condition | Europe | Whole exome sequencing |
| Fehlings et al., 2024 | 10.1038/s41588-024-01686-x | European, American and East Asian; 327 CP patient and parent trios recruited from the Childhood Cerebral Palsy Integrated Neuroscience Discovery Network and Canadian Cerebral Palsy Registry | Europe, America, East Asia | Whole genome sequencing |
| Wang et al., 2024 | 10.1038/s41591-024-02912-z | Chinese; 1578 CP patients from the Children's Hospital and Third Affiliated Hospital of Zhengzhou University | East Asia | Whole exome sequencing (n=1536), whole genome sequencing (n=42) |
| Vasconcellos et al., 2023 | 10.5334/tohm.746 | Patient diagnosed with CP with progressive gait disorder, generalised involuntary movement | Not specified | Molecular genetic testing (method not specified) |
| Almansa et al., 2024 | 10.1002/acn3.51942 | Not stated; 30 CP patients part of the Boston Children's Hospital (BCH) CP Sequencing Study | Not specified | Whole exome sequencing |
| Varner et al., 2023 | 10.1055/s-0043-1774312 | Multiracial; 1013 patients born with an extremely low birth weight, of which some were diagnosed with CP | Not specified | TagSNP genotyping performed on whole-genome DNA |
| Thys et al., 2024 | 10.1016/j.pediatrneurol.2024.07.019 | European; 337 CP patients recruited at the Cerebral Palsy Reference Center of Antwerp | European | Exome sequencing |
| Zhu et al., 2018 | 10.1007/s13258-018-0729-6 | Chinese; 10 CP patients | East Asia | Exome sequencing |