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 | - | - | + | - |
