The Study Findings table contains information on the genetic findings of a particular NESHIE or CP genetic study. Variants with statistically-significant associations with NESHIE or CP have p-values < 0.05. Odds ratio values quantify the strength of association of a variant allele with NESHIE or CP.
Paper: van Eyk et al., 2021
DOI: 10.1038/s41525-021-00238-0
Study population description: Australian (Caucasian), 150 CP cases (18 trios, 76 duos, 56 singletons)
Regional classification: East Asia
Sequencing or genotyping methods: Polymerase chain reaction-free whole genome sequencing
| Variant | Reported allele or genotype | Condition | Condition description | Disease status | Odds ratio | P value |
|---|---|---|---|---|---|---|
| NM_000092.5:c.4720C>T | A allele | CP | NESHIE; spastic quadriplegia, dykinesia, seizures | Not determined | None | None |
| NM_001165963.4:c.2522C>T | T allele | CP | Spastic quadriplegia, seizures, epilepsy, developmental delay | Not determined | None | None |
| rs113993960 | A allele | CP | None | Not determined | None | None |
| NM_000092.5: c.4720C>T | A allele | CP | NESHIE; spastic quadriplegia, dykinesia, seizures | Not determined | None | None |
| NM_001165963.4: c.2522C>T | T allele | CP | Spastic quadriplegia, seizures, epilepsy, developmental delay | Not determined | None | None |
| NM_138736.3:c.951A>C | C allele | CP | Spastic hemiplegia, epilepsy, developmental delay | Not determined | None | None |
| NM_001303110.2:c.1258G>A | T allele | CP | Asymmetric spastic diplegia, developmental delay, seizures | Not determined | None | None |
| NM_001845.6:c.4114G>C | G allele | CP | Spastic hemiplegia | Not determined | None | None |