| This Report, 2020 | Ismayilova et al., 2018 |
---|---|---|
Genotype | c.275 + 1del | c.275 + 1G > A |
Clinical Findings | Epilepsy, developmental delay, white matter hyperintensities, movement disorders (dystonia and choreoathetosis), microcephaly | Epilepsy, developmental delay, white matter hyperintensities, truncal hypotonia |
CSF glucose (mg/dL) | 32 | 21.6 |
CSF/serum ratio | 0.36 | 0.24 |