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Page 174 Bone et al. J Transl Genet Genom 2022;6:169-78 https://dx.doi.org/10.20517/jtgg.2021.56

Table 2. Genotype, imaging, EEG, and clinical features
Age Walking
Subject
ID Gender at 1st Genotype Epilepsy Delayed by ≥ EEG MRI brain
1 year
EEG
Large deletion
02 M 2yr 6.757 Mb del No X Normal Normal
18q21.2 (20 genes)
03 F 16m 4.2 Mb deletion of No n/a Normal n/a
Ch 18q21.2
(14 genes)
04 M 5yr 20kb del 18q21.2 Left eye deviation with GTC X Right central and left ACC, MC, Frontal
temporal SW, hypoplasia
Generalized Slowing
11 M 7yr 94kb del 18q21.2 Behavioral arrest with X Right occipital, Normal
generalized stiffening parietoccipital SW,
Bilateral occipital SW
17 F 4yr 7.6Mb deletion X Normal n/a
18q21.2
(Entire gene)
Missense
10 M 2yr c.1738C > T X Normal Thin CC, delayed
(Exon 18) myelination, Frontal
hypoplasia
12* M 9yr c.1933delG Normal Dysplastic CC
(Exon 19)
13 M 23m c.457 - 461del X Background slowing Diffuse atrophy,
(Exon 12) punctate gliosis
#
18 F 2yr c.1650 - 2 A > G Left-sided stiffening and X Right temporal SW, Thin CC
(Intron 17) jerking with altered Right temporal slowing
consciousness
27 F 4yr c.922 + 3G > T X Disorganized, slow Inferior vermis
(Intron 11) background hypoplasia
28 M 4yr c.1739G > A Eyes roll back, generalized X Multifocal SW MC
(Exon 18) stiffening with left arm Right fronto-temporal
jerking and perioral cyanosis SW
Generalized SW,
Generalized slowing
31 M 3yr c.1739G > A (exon X Normal Diffuse atrophy,
18) Thin CC
Nonsense
16 M 6yr c.680 - 682 del X Bifrontal slowing Paucity of WM
(Exon 10)
29 F 6yr c.605delC (Exon X Right centro-temporal Delayed
9) slowing myelination #
30 M 15m c.1169del (Exon 15) Left-sided jerking with n/a No SW, Right PV gliosis
retained consciousness centroparietal slowing
Duplication
05 M 2yr 201 kb duplication X Normal n/a
of Ch 18q21.2
(Exons 5 - 8)
This table summarizes the details of genotype and phenotype of all individuals in the cohort. *Indicates the only individual in the cohort with
verbal communication abilities. #Indicates individuals with a normal brain MRI on repeat study. GTC: generalized tonic-clonic; ACC: absence of
corpus callosum; MC: microcephaly; CC: corpus callosum; WM: white matter; PV: periventricular; SW: spike wave.

duration (i.e., 1-h vs. 24-h or longer EEG) or age at the time of EEG between the two cohorts. A larger
prospective study controlling for these variables is needed. There was no specific correlation between EEG
results and developmental trajectories or age in our patient group.