Table 2.
Genomic data and key features of epilepsy for 42 patients with MEF2C-relative epilepsy
| Genetic defect | Epilepsy phenotype | References | |
|---|---|---|---|
| 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] |
Del deletion, GC genomic coordinates, Mb megabase, ISS infantile spasms