Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability
and childhood-onset epilepsy. Fry et al.
Additional file 1:
Table S1
A detailed demographic description of the cohort
Age at recruitment
<1y
1-5y
6-10y
11-15y
16-20y
21-30y
31-40y
41-50y
51-60y
2
13
10
6
10
24
5
8
2
Gender
Male
Female
Male
Female
14
17
22
27
<1m
1-6m
7-12m
13m-5y
6-10y
11-15y
Uncertain
10
18
10
20
6
3
13
White British
South Asian
Mixed White/South Asian
78
1
1
No
Yes
78
2
<16 years
16 or over
Age at seizure onset
Ethnic origin
Parental consanguinity
Probands with similarly affected first-degree relative(s)
0 relatives
1 relatives
3 relatives
73
6*
1**
Abbreviations: Age at recruitment and seizure onset is in y(ears) or m(onths).
* All siblings.
** A parent and two affected siblings.
Table S2
Previous cytogenetic and molecular testing in the cohort
Disorder/gene/test
Karyotype
FMR1
MECP2
CDKL5
ARX
Angelman syndrome
SCN1A
22q11.2
Subtelomeric screen
FOXG1
17p11.2
1p36
STXBP1
TCF4
POLG
mtDNA studies
Prader Willi syndrome
CSTB
SLC9A6
TSC1/TSC2
22q13
DRPLA
HTT
NF1
PCDH19
SLC2A1
Methodology
Lymphocyte culture, G banding
PCR of CGG repeat
Sequencing +/- MLPA*
Sequencing +/- MLPA
PCR of polyalanine expansions +/- sequencing
Methylation testing (PCR of bisulphite modified
DNA in SNRPN region)
Sequencing +/- MLPA
FISH
FISH
Sequencing and MLPA
FISH
FISH
Sequencing
Sequencing and MLPA
Pyrosequencing of common mutations
Fluorescent restriction digest PCR (common
mutations), long range PCR (major mtDNA
rearrangements) and real-time PCR (mtDNA
depletion)
Methylation testing (PCR of bisulphite modified
DNA in SNRPN region)
PCR of dodecamer expansion
Sequencing
Sequencing
FISH
PCR of CAG repeat
PCR of CAG repeat
Sequencing
Sequencing
Sequencing and MLPA
Number
(out of 80)
61
24
17
16
14
13
9
6
5
5
4
3
3
3
3
3
2
2
2
1
1
1
1
1
1
1
Abbreviations: FISH, fluorescent in situ hybridisation; MLPA, multiplex ligation-dependent
probe amplification; mtDNA, mitochondrial DNA; PCR, polymerase chain reaction.
*Historically some gene tests only used sequencing. More recent versions of these tests have
included MLPA as well.