Table 2 Genomic data and key features of epilepsy for 42 patients with MEF2C-relative epilepsy

1

De novo, likely pathogenic heterozygous variant, MEF2C: c.236 G > C (p.Arg79Pro)

Focal impaired awareness motor seizures

[9]

2

De novo, missense variant, MEF2C: c.48C > G (p.Asn16Lys)

Focal seizures

[75]

3

Pathogenic heterozygous variant, MEF2C: c.565C > T (p.Arg189)

Not reported

[75]

4

Heterozygous variant, MEF2C: c.334 G > T (p.Glu112)

Focal seizures

[75]

5

De novo, heterozygous variant, MEF2C: c.403-1 G > T

Febrile seizures, followed by afebrile seizures

[75]

6

De novo, pathogenic heterozygous variant, MEF2C: c.766C > T (p.Arg256)

Febrile seizures

[75]

7

5q14.3q15 del, GC Chr5: 88 098 253-88 592 348

Febrile seizures

[73]

8

5q14.3q15 del, GC Chr5: 88 034 622-88 164 453

Febrile seizures, followed by generalized seizures

[73]

9

5q14.3q15 del, GC Chr5: 88 193 289-88 450 318

Febrile seizures, followed by generalized and absence seizures

[73]

10

De novo, pathogenic heterozygous variant, MEF2C: c.220 G > T (p.Glu74Ter, premature stop codon)

Febrile seizures and afebrile seizures

[73]

11

MEF2C deletion, exons1–2 (MLPA)

Not reported

[73]

12

De novo, pathogenic missense heterozygous variant, MEF2C: c.9A > T (p.R3S)

Atypical absence, atonic, myoclonic and refractory seizures

[57]

13

5q14.3 del (0.01 Mb), GC Chr5: 88 110 707–88 278 367

Not reported

[68]

14

De novo, missense heterozygous variant, MEF2C: c.258 G > A (p.E86E)

Not reported

[65]

15

Pathogenic frameshift variant, MEF2C: c.833delT (p.Leu278Terfs)

Myoclonic and atonic seizures

[53]

16

5q14.3 del (0.05 Mb), GC Chr5: 880 519 70-881 045 35

Not reported

[53]

17

Pathogenic frameshift heterozygous variant, MEF2C c.457delA (p.Asn153ThrfsX33)

Myoclonic and febrile seizures

[7]

18

5q14.3 del (3.6 Mb), GC Chr5: 85,855,118–89,474,751

ISS

[53]

19

5q14.3 del (5.11 Mb), GC Chr5: 85,684,257–90,798,560

Myoclonic epilepsy

[53]

20

5q14.3 del (1.0 Mb), GC Chr5: 88,018,766–89,063,989

Not reported

[53]

21

5q14.3 del (1.38 Mb), GC Chr5: 87,905,325–89,289,023

Myoclonic epilepsy, followed by ISS

[53]

22

5q14.3 del (0.32 Mb), GC Chr5: 87,905,325–88,220,403

Myoclonic and generalized epilepsy

[53]

23

Frameshift Mutation in MEF2C, c833delT

Myoclonic and atonic epilepsy

[53]

24

5q14.3 del (1.95 Mb), GC Chr5: 87,566,009–89,505,509

Myoclonic epilepsy and ISS

[53]

25

5q14.3 del (6.0 Mb), GC Chr5: 87,719,139–93,736,389

ISS

[53]

26

5q14.3 del (11.6 Mb), GC Chr5: 81,657,245–93,240,731

Febrile seizures

[53]

27

5q14.3 del (5.4 Mb), GC Chr5: 88,185,348–93,546,896

Myoclonic epilepsy

[53]

28

5q14.3 del (0.41 Mb), GC Chr5: 88,177,038–88,592,311

Febrile seizures

[53]

29

5q14.3 del (5.2 Mb), GC Chr5: 84,520,000–89,800,000

Myoclonic epilepsy

[53]

30

De novo, pathogenic missense heterozygous variant, MEF2C: c.113T > A (p.Leu38Gln)

Not reported

[86]

31

De novo, heterozygous 1-bp duplication of the MEF2C gene: 99dupT (p.E34X)

Complex partial seizure

[86]

32

Pathogenic variant, MEF2C: c.226_236del11 (p.H76fsX15)

Not reported

[86]

33

De novo, heterozygous missense variant, MEF2C:c.80 G > C (p.Gly27Ala)

Not reported

[86]

34

De novo, heterozygous nonsense variant, 683C-G transversion in exon 7 of the MEF2C gene

Not reported

[36]

35

5q14 del (0.02 Mb), GC Chr5: 87 770 283-88 051 970

Febrile seizures

[36]

36

5q14.3 del (3.24 Mb), arr5q14.3q15 (890 687 77-923 160 85) × 1, hg19

ISS

[10]

37

5q14.3 del (5.69 Mb), arr cgh 5q14.3q15 (rs10514301 − rs9314105) × 1 dn

ISS, occasional seizures

[22]

38

5q14.3 del (3.6 Mb), arr cgh 5q14.3 (RP11-291O24-RP11-62E10) × 1 dn

Febrile seizure

[22]

39

5q14.3-q15 del (3.574 Mb), arr cgh 5q14.3q15 (rs10223241 − rs17664587) × 1 dn

Atypical absences, followed by complex partial seizures

[22]

40

5q14.3-q21.3 del (17 Mb), GC Chr5:88 945 075–105 929 555

Febrile seizures, followed by generalized tonic–clonic seizures

[14]

41

5q14.3-q15 del (8.4 Mb), GC Chr5: 87 086 298–95 538 699

ISS, epileptic spasms

[14]

42

5q14.3-q15 del (6.3 Mb), GC Chr5: 88 659 488–94 986 600

Episodes of unresponsiveness, followed by myoclonic seizures

[14]