Page 130 - Molecular features of low-grade developmental brain tumours

SEGA Age (#) (years)
Location Age of Seizure Gender Mutation of tumour Epilepsy epilepsy freq.
onset
5
CHAPTER 5
Table 1. Summary of clinicopathological features of patients with SEGA.
1a 10 2a 11
3a,b,c 8 4a 13
5a 1 6a,b 13
7a 14 8a 4
9a,b 7 10a,b,c,d 17
11a 1 12a,b,c 13
13a,b 24 14a,b 8
15a 9 16a 28
17a,b,d 33 18a,b 1
19a,b 28 20b,c 1
21b,c,d 4 22c,d 16
23c 10
24c 5
male female male female male
male
male
male female female female male male male
male
female male
male
male female male male male
female
TSC2 TSC2 TSC2 TSC1 TSC2
TSC2
TSC2 TSC1 TSC2 TSC2 TSC2 TSC2 TSC1 NMI
TSC1
unknown unknown
unknown
TSC2 TSC2 TSC2 TSC1 TSC2
TSC2
lateral ventricle lateralventricle lateral ventricle lateral ventricle lateral ventricle
left caudate nucleus lateralventricle lateral ventricle lateral ventricle lateralventricle lateral ventricle lateral ventricle lateral ventricle left caudate nucleus right caudate nucleus unknown basal nuclei
left caudate nucleus lateral ventricle lateralventricle lateral ventricle lateralventricle 3th ventricle
lateral ventricle
yes no yes yes yes
yes
no yes yes no yes yes yes yes
yes
yes yes
yes
yes no yes no yes
yes
3 years daily NA NA
4 months 17 months 1 month
6 months
none monthly daily
weekly
NA NA
3 months monthly 5 months daily
NA NA
1 month 4 months 6 years 1 year
2 years
unknown 6 months
8 months
7 years
NA NA
3 months daily NA NA
3 months seizure free
1 months daily
daily weekly daily weekly
monthly
unknown daily
monthly
daily
128
SEGA samples used for RNA-Seq (a), RT-qPCR (b), in situ hybridization (c) and immunohistochemistry (d). AED = antiepileptic drugs; AML = angiomyolipoma; NA= not applicable; NMI= no mutation identifified; SEN = subependymal nodule; FCD = focal cortical dysplasia. *The most commonly used AEDs are carbamazepin, vigabatrin, valproate and topiramate, however each patient had a personalized drug
treatment regime.