Table 6 Abnormalities of brain MRI in 48 patients
| Â | N (%) | Gene |
|---|---|---|
Cerebral cortex changes | 3 (6.3) | Â |
  Lissencephaly | 2 (5.2) | PAFAH1B1(2) |
  Polymicrogyria | 1 (2.1) | AKT3 |
Cerebral white matter changes | 28 (58.3) | Â |
   Delayed myelination | 15 (31.3) | ALG1, BCS1L, FOXG1, GLB1, GNB5, HEXA, IQSEC2, KCNB1, KCNQ2, PMM2, PURA, SHANK3, SLC16A2, TCF4, WDR45 |
   Hypomyelination | 10 (20.1) | ATRX, CPLANE1, DDC, GFM1, GJC2, FOLR1C, SMC1A, SOX10, STXBP1, WDR45 |
   Demyelination | 3 (6.3) | GALC, GFAP(2) |
Cerebral atrophy | 4 (8.3) | DOCK6, ERCC8, ISPD, SYNGAP1 |
Megalencephaly | 1 (2.1) | AKT3 |
Subarachnoid space enlargement | 4 (8.3) | GFM1, IDS, IQSEC2, KCNQ2, SCN2A |
Hypoplasia of corpus callosum | 12 (25) | ATRX, DDX3X, DOCK6, FOXG1, GATAD2B, IQSEC2, PAFAH1B1(2), PMM2, POLR1C, TCF4, ZEB2 |
Abnormality of cerebellar | 7 (14.6) | Â |
  Cerebellar atrophy | 3 (6.3) | ATP1A3, PMM2, POLR1C |
  Cerebellar dysplasia | 4 (8.3) | CPLANE1, ISPD, PMM2, POLR1C |
Ventriculomegaly/hydrocephalus | 6 (1.3) | AKT3, HEXB, IDS, ERCC8, GALC, GCDH |
Basal ganglia lesions | 2 (5.2) | ALG1, FARS2 |