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. 2018 Dec 14;27(3):408–421. doi: 10.1038/s41431-018-0299-8

Table 3.

Main clinical features in diagnosed cases

Patient ID LOVD or Decipher ID sex (Likely) pathogenic sequence or copy number variant gene / region (inheritance) reference transcript (hg19) Incidental findings Ethnicity Parental consanguinity Age at last evaluation Age at seizure onset Type of encephalopathy and seizures DD/ID MRI findings Hypotonia Spasticity Ataxia Microcephaly

72356

Decipher 370071

 f

1p36.23-pter (AD, DN)

deletion (7.7 Mb)

chr1:g.(0_849466)_(7666975_7683885)del

 - Caucasian No 12 m Neonatal EE; Apneas, focal myoclonic (periorbital), My, T, C Moderate-to-severe Normal + - - +

71592

Decipher 370076

 m

22q11.22 -q11.23 (AD, DN)

recurrent microduplication

chr22:g.(22953405_22953514)_(25026857_25027086)dup

 RAF1? (AD) Caucasian No 16 y 2 m FS at 2 y, seizures at 3 y 3 m EE; FS, ES, myoclonic-atonic, A, C Severe Normal + - + +

69986

LOVD 176985

 f

ACO2 (AR, CH)

NM_001098.2:c.[1859G > A];[2048 G > T]

p.[(Gly620Asp)];[(Gly683Val)]

 - Caucasian No 1 y 10 m 7 m EE; Generalized myoclonic, T, focal impaired awareness, SE Severe Marked cerebral and cerebellar atrophy, diffuse leukencephalopathy  +   +  -  + 

70757

LOVD 176997

 f

AP4S1 (AR, HO)

NG_031913.1(NM_007077.4):c.[138 + 3_138+6del];[138+3_138+6del]

p.[?];[?]

 - Caucasian No 1 y 3 m Neonatal EE; T, focal aware, focal impaired awareness Moderate Aqueductal stenosis with hydrocephalus internus + + + -

72892

LOVD 177002

 m

ARX (XL-R, inherited)

NM_139058.2:c.1057 C > T

p.(Pro353Ser)

 - Afghan No 6 m 8w EE; ES, C Severe Normal  +   +  - -

73311

LOVD 177003

 m

BRAT1 (AR, CH)

NM_152743.3:c.[2125_2128del];[638dup]p.[(Phe709Thrfs*17)];[(Val214Glyfs*189)]

 - Caucasian No 6 m Neonatal EE; My Severe NA - + - -

72128

Decipher 370072

 f

CDKL5 (XL-D, DN)

mosaic deletion (25 Kb)

chrX:g.(18592712_18592741)_(18617503_18617862)del

 - Caucasian No 11 m 6w EE; ES, T, C, eye lid myoclonia Moderate Normal + - - +

72404

LOVD 177004

 m

CDKL5 (XL-D, DN)

NG_008475.1(NM_003159.2):c.282+3_282+6del

 - Caucasian No 8 y 4 m 1 m EE; T, GTC Severe Normal + + - -

73324

LOVD 177005

 f

GABRB2 (AD, DN)

NM_021911.2:c.719 G > C

p.(Arg240Thr)

 - Caucasian No 6 y 6 m 2 y 4 m DEE; GTC, T, My, AA, subclinical SE Severe Normal + - + +

73214

LOVD 176996

 f

KCNQ2 (AD, DN)

NM_172107.2:c.740 C > T

p.(Ser247Leu)

 - Caucasian No 3y4m Neonatal EE; T, My Severe Normal + - - +

50126

Decipher 370070

 m

MBD5 (AD, DN)

deletion (197 Kb)

chr2:g.(148757084_148762374)_(148959158_ 148960882)del

 - Caucasian No 13 y 5 m 1 y 7 m EE; FS (first seizures), GTC, T Severe Multiple T2 hyperintensities, multiple parenchymal lesions - + + +

71693

LOVD 177006

 m

POLG (AR, CH)

NM_002693.2:c.[2542 G > A];[824 G > A]p.[(Gly848Ser)];[(Arg275Gln)]

 - Caucasian No 14 y 7 m 1 y 6 m DEE; A, eyelid myoclonia, focal clonic (Epilepsia partialis continua) Moderate Low-grade glioma in the left thalamus, diffusion restriction in the left occipital region + - + +

69937

LOVD 177008

 m

PRUNE1 (AR, HO)

NM_021222.2:c.[316 G > A];[316 G > A]p.[(Asp106Asn)];[(Asp106Asn)]

 - Sri Lankan 1st degree cousins 1 y 2 m 6 m DEE; ES, focal aware, T, My Severe Immature cortex differentiation (35 GW), punctate cerebellar hemorrhages, signs of hypoxia + + - +

34124

LOVD 177009

 m

SCN1A (AD, DN)

NM_001165963.1:c.5348 C > T

p.(Ala1783Val)

 - Caucasian No 16 y 4.5 m EE; Focal clonic (sec gen), GTC with cyanosis, My, AB, recurrent SE, infection-triggered seizures Severe Cerebral atrophy, enlargement of Virchow Robin spaces + - + -

47970

LOVD 177010

 m

SCN1A (AD, DN)

NM_001165963.1:c.4754del

p.(Thr1585Metfs*6)

 - Caucasian No 17 y 6 m 2 m EE; Focal, GTC, SE (infection-triggered), AB Severe Normal - + - -

75143

LOVD 177011

 f

SCN1A (AD, DN)

NM_001165963.1:c.1142del

p.(Gln381Argfs*10)

 - Caucasian No 28 y 3 m EE; GTC, T, focal impaired awareness, reflex seizures (photosensitivity) Severe Cerebellar atrophy - + - NA

42680

LOVD 177012

 m

SCN2A (AD, DN)

NM_021007.2:c.5408 A > G

p.(Glu1803Gly)

 - Caucasian No 14 y Neonatal EE; T (serial), My, apneas Severe Generalized atrophy, hippocampal atrophy and sclerosis, atrophy of corpus callosum + + - -

43092

LOVD: 177013

 m

SCN8A (AD, DN)

NM_014191.3:c.5615 G > A

p.(Arg1872Gln)

 CHST6 (carrier) Caucasian No 13 y 7 m 3 m EE; GTC, T, focal sec gen seizures with apneas and cyanosis severe Cerebral atrophy + - + -

72555

LOVD 177014

 m

SMS (XL-R, inherited)

NM_004595.4:c.388 C > T

p.(Arg130Cys)

 FIG4 (carrier) Caucasian No 2 y 11 m 12 m DEE; ES, T, A, AA Severe Hypoplasia of corpus callosum, slight cerebral cortical atrophy + + - +

47651

Decipher 370082

LOVD 177015

 m

SPATA5 (AR, CH)

chr4:g.[(123951799_123952079)_(124003383_124003384)del];[123855735_123855737del]

NM_145207.2:c.[2080_2213del];[989_991del]

p.[(Gly694Phefs*23)];[(Thr330del)]

 - Caucasian No 13 y 8 m DEE; ES, T, C, A, AB, gelastic seizures Severe Delayed myelination, cortical atrophy, white matter atrophy, thin corpus callosum - + - -

73068

LOVD 177016

 m

SPATA5 (AR, CH, DN on one allele)

NM_145207.2:c.[2389 C > G];[1 A > C]p.[(Pro797Ala)];[(Met1?)]

 - Caucasian No 5 y 7 m 5 m EE; ES, GTC, T, focal aware Severe Delayed myelination, supra- and infratentorial white matter atrophy -  +  - +

52236

LOVD 00181099

 f

STXBP1 (AD, DN)

chr9:130422393

NG_016623.1(NM_003165.3):c.325+6 T > C

 - Caucasian No 10 y 2 m 1 m EE; Focal impaired awareness, eyelid myoclonia Severe Normal + - + -

73805

LOVD 177023

 m

STXBP1 (AD, DN)

NM_003165.3:c.1268 T > C

p.(Leu423Pro)

 - Caucasian No 7 m Neonatal EE; T, C, My, ES, fever- and infection triggered seizures Moderate Bilateral hyperintense ischemic lesion in the posterior limb of the capsula interna + + - -

72943

LOVD 177024

 m

SZT2 (AR, CH?, DN on one allele)

NM_015284.3:c.1045del(;)1891G > Ap.(Ser349Profs*9)(;)(Glu631Lys)

 - Caucasian No 1 y 8 m 6 m EE; ES, GTC, focal impaired awareness Severe Dysmorphic corpus callosum, septations in the frontal ventricles, polymicrogyria  +  - - -

71412

Decipher 370084

 f

UBE3A (AD, DN)

15q11.2-q13.11 deletion (4.9 Mb)

chr15:g.(23620154_23620191)_(28545355_28545445)del

 OTOF (carrier) Caucasian No 2 y 5 m 1 y DEE; AB Severe NA  +  - + +

49635

Decipher 370081

 m

UBE3A (AD, DN)

deletion (134 Kb)

chr15:g.(25583244_25583408)_(25717757_25717851)del

 - Caucasian No 12 y 10 m FS at 3 y 10 m, seizures at 6 y 4 m DEE; FS, GTC, focal impaired awareness Severe Normal - - + -

A atonic, AA atypical absences, AB absences, AD autosomal dominant, AR autosomal recessive, C clonic, CH compound heterozygous, DEE developmental and epileptic encephalopathy, DN de novo, EE epileptic encephalopathy, ES epileptic spasms, F female, FS febrile seizures, GTC generalized tonic-clonic, HO homozygous, M male, m months, My myoclonic, NA not available, SE status epilepticus, sec gen secondarily generalized, T Tonic, w weeks, XL-D X-linked dominant, XL-R X-linked recessive, y years