Epilepsy syndrome classification 24 months after initial presentation, and genetic findings in each group
| Syndrome . | n . | Incidence per 100 000 live births (95% CI) . | DRE . | GDD . | Death . | Associated genetic causesa . |
|---|---|---|---|---|---|---|
| Developmental and epileptic encephalopathies | 146 | 86.1 (72.7–101.3) | 120 (82%) | 134 (92%) | 11 (8%) | |
| Infantile spasms syndrome | 52 | 30.7 (22.9–40.2) | 27 (52%) | 42 (81%) | 1 (2%) | Trisomy 21 (6), CDKL5 (2), TSC1 (2), TSC2 (3), Trisomy 13, 16p13.11 deletion, 17p13.3 deletion (Miller-Dieker), IDIC15, ASAH1, CACNA1G, DEPDC5, PAFAH1B1, POLR1A. Total = 22 (42%) |
| Early infantile DEE (<3 months) | 17 | 10.0 (5.8–16.0) | 17 (100%) | 17 (100%) | 4 (24%) | CDKL5 (2), ALG3, CASK, CNTNAP1, COL4A1, FOXG1, KCNQ2, KCNT1, SCN2A, STXBP1, TUBA1A. Total = 12 (71%) |
| Dravet syndrome | 11 | 6.5 (3.2–10.0) | 11 (100%) | 9 (82%) | 0 (0%) | SCN1A (11). Total = 11 (100%) |
| Epilepsy with myoclonic atonic seizures | 9 | 5.3 (2.4–10.1) | 8 (89%) | 8 (89%) | 0 (0%) | 7q deletion, 16p11.2 deletion, NIPBL, SLC6A1, STX1B. Total = 5 (56%) |
| Alpers syndrome | 2 | 2 (100%) | 2 (100%) | 2 (100%) | POLG (2). Total = 2 (100%) | |
| Absences with eyelid myoclonia | 1 | 1 (100%) | 1 (100%) | 0 (0%) | CHD2. Total = 1 (100%) | |
| Other DEE | 54 | 31.9 (23.9–41.6) | 54 (100%) | 54 (100%) | 4 (7%) | 15q11-13 deletion (Angelman, 2), 16p11.2 deletion (2), PCDH19 (2), SLC6A1 (2), 1p36 deletion, 1q21.1–21.2 duplication, 17p13.3 deletion (Miller-Dieker), 17q12 deletion, marker chromosome 20, AMT (glycine encephalopathy), FOXG1, KCNQ2, SCN8A, TSC2, WT1. Total = 19 (35%) |
| Self-limited epilepsies | 37 | 21.8 (15.4–30.1) | 0 (0%) | 1 (3%) | 0 (0%) | |
| Self-limited neonatal epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 0 (0%) | 0 (0%) | KCNQ2 (5), KCNQ3 (3). Total = 8 (89%) |
| Self-limited infantile epilepsy | 24 | 14.2 (9.1–21.1) | 0 (0%) | 1 (4%) | 0 (0%) | PRRT2 (17), KCNA2, KCNQ2. Total = 19 (79%) |
| Myoclonic epilepsy of infancy | 4 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Other specific syndromes | 25 | 14.7 (9.5–21.8) | 0 (0%) | 2 (8%) | 0 (0%) | |
| Early onset absence epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 2 (22%) | 0 (0%) | |
| Epilepsy with myoclonic absences | 2 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Familial focal epilepsy | 1 | 0 (0%) | 0 (0%) | 0 (0%) | DEPDC5. Total = 1 (100%) | |
| Febrile seizures + | 10 | 5.9 (2.8–10.9) | 0 (0%) | 0 (0%) | 0 (0%) | SCN1A. Total = 1 (10%) |
| Panayioutopoulos syndrome | 3 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Unclassified epilepsies | 182 | 107.4 (92.3–124.2) | 19 (10%) | 56 (31%) | 2 (1%) | |
| Unclassified epilepsy | 58 | 34.2 (23.6–44.2) | 9 (19%) | 1 (2%) | 1 (2%) | SLC2A1 (3), SLC6A1 (4), 4p16.3-4p16.2 deletion, 16p11.2 deletion, CHD4, MAF1, PCDH19. Total = 12 (16%) |
| Unclassified focal and generalized epilepsy | 16 | 9.4 (5.4–15.3) | 3 (35%) | 2 (13%) | 0 (0%) | 7p deletion and 7q duplication, ATP7A, SLC2A1. Total = 3 (19%) |
| Unclassified focal epilepsy | 88 | 51.9 (41.6–64.0) | 12 (14%) | 29 (33%) | 1 (1%) | DEPDC5 (2), 16p11.2 duplication, Xp22.31 deletion, B3GALNT2 (Walker-Warburg), KCNQ2, MECP2, NEXMIF, PCDH19, SCN2A, SLC2A1. Total = 12 (14%) |
| Unclassified generalized epilepsy | 17 | 10.0 (5.8–16.0) | 3 (18%) | 5 (29%) | 0 (0%) | SCL2A1 (2), Xq12 deletion, CACNA1A. Total = 4 (24%) |
| Unclassified myoclonic epilepsy | 3 | 0 (0%) | 1 (33%) | 0 (0%) | SCL2A1. Total = 1 (33%) | |
| All drug-resistant epilepsiesb | 139 | 82.0 (59.4–96.8) | 116 (83%) | 10 (7%) |
| Syndrome . | n . | Incidence per 100 000 live births (95% CI) . | DRE . | GDD . | Death . | Associated genetic causesa . |
|---|---|---|---|---|---|---|
| Developmental and epileptic encephalopathies | 146 | 86.1 (72.7–101.3) | 120 (82%) | 134 (92%) | 11 (8%) | |
| Infantile spasms syndrome | 52 | 30.7 (22.9–40.2) | 27 (52%) | 42 (81%) | 1 (2%) | Trisomy 21 (6), CDKL5 (2), TSC1 (2), TSC2 (3), Trisomy 13, 16p13.11 deletion, 17p13.3 deletion (Miller-Dieker), IDIC15, ASAH1, CACNA1G, DEPDC5, PAFAH1B1, POLR1A. Total = 22 (42%) |
| Early infantile DEE (<3 months) | 17 | 10.0 (5.8–16.0) | 17 (100%) | 17 (100%) | 4 (24%) | CDKL5 (2), ALG3, CASK, CNTNAP1, COL4A1, FOXG1, KCNQ2, KCNT1, SCN2A, STXBP1, TUBA1A. Total = 12 (71%) |
| Dravet syndrome | 11 | 6.5 (3.2–10.0) | 11 (100%) | 9 (82%) | 0 (0%) | SCN1A (11). Total = 11 (100%) |
| Epilepsy with myoclonic atonic seizures | 9 | 5.3 (2.4–10.1) | 8 (89%) | 8 (89%) | 0 (0%) | 7q deletion, 16p11.2 deletion, NIPBL, SLC6A1, STX1B. Total = 5 (56%) |
| Alpers syndrome | 2 | 2 (100%) | 2 (100%) | 2 (100%) | POLG (2). Total = 2 (100%) | |
| Absences with eyelid myoclonia | 1 | 1 (100%) | 1 (100%) | 0 (0%) | CHD2. Total = 1 (100%) | |
| Other DEE | 54 | 31.9 (23.9–41.6) | 54 (100%) | 54 (100%) | 4 (7%) | 15q11-13 deletion (Angelman, 2), 16p11.2 deletion (2), PCDH19 (2), SLC6A1 (2), 1p36 deletion, 1q21.1–21.2 duplication, 17p13.3 deletion (Miller-Dieker), 17q12 deletion, marker chromosome 20, AMT (glycine encephalopathy), FOXG1, KCNQ2, SCN8A, TSC2, WT1. Total = 19 (35%) |
| Self-limited epilepsies | 37 | 21.8 (15.4–30.1) | 0 (0%) | 1 (3%) | 0 (0%) | |
| Self-limited neonatal epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 0 (0%) | 0 (0%) | KCNQ2 (5), KCNQ3 (3). Total = 8 (89%) |
| Self-limited infantile epilepsy | 24 | 14.2 (9.1–21.1) | 0 (0%) | 1 (4%) | 0 (0%) | PRRT2 (17), KCNA2, KCNQ2. Total = 19 (79%) |
| Myoclonic epilepsy of infancy | 4 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Other specific syndromes | 25 | 14.7 (9.5–21.8) | 0 (0%) | 2 (8%) | 0 (0%) | |
| Early onset absence epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 2 (22%) | 0 (0%) | |
| Epilepsy with myoclonic absences | 2 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Familial focal epilepsy | 1 | 0 (0%) | 0 (0%) | 0 (0%) | DEPDC5. Total = 1 (100%) | |
| Febrile seizures + | 10 | 5.9 (2.8–10.9) | 0 (0%) | 0 (0%) | 0 (0%) | SCN1A. Total = 1 (10%) |
| Panayioutopoulos syndrome | 3 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Unclassified epilepsies | 182 | 107.4 (92.3–124.2) | 19 (10%) | 56 (31%) | 2 (1%) | |
| Unclassified epilepsy | 58 | 34.2 (23.6–44.2) | 9 (19%) | 1 (2%) | 1 (2%) | SLC2A1 (3), SLC6A1 (4), 4p16.3-4p16.2 deletion, 16p11.2 deletion, CHD4, MAF1, PCDH19. Total = 12 (16%) |
| Unclassified focal and generalized epilepsy | 16 | 9.4 (5.4–15.3) | 3 (35%) | 2 (13%) | 0 (0%) | 7p deletion and 7q duplication, ATP7A, SLC2A1. Total = 3 (19%) |
| Unclassified focal epilepsy | 88 | 51.9 (41.6–64.0) | 12 (14%) | 29 (33%) | 1 (1%) | DEPDC5 (2), 16p11.2 duplication, Xp22.31 deletion, B3GALNT2 (Walker-Warburg), KCNQ2, MECP2, NEXMIF, PCDH19, SCN2A, SLC2A1. Total = 12 (14%) |
| Unclassified generalized epilepsy | 17 | 10.0 (5.8–16.0) | 3 (18%) | 5 (29%) | 0 (0%) | SCL2A1 (2), Xq12 deletion, CACNA1A. Total = 4 (24%) |
| Unclassified myoclonic epilepsy | 3 | 0 (0%) | 1 (33%) | 0 (0%) | SCL2A1. Total = 1 (33%) | |
| All drug-resistant epilepsiesb | 139 | 82.0 (59.4–96.8) | 116 (83%) | 10 (7%) |
DEE = developmental and epileptic encephalopathy; IDIC15 = isodicentric chromosome 15. aIf more than one patient, number is given in parentheses. bNote that ‘All drug-resistant epilepsies’ is not a syndrome.
Epilepsy syndrome classification 24 months after initial presentation, and genetic findings in each group
| Syndrome . | n . | Incidence per 100 000 live births (95% CI) . | DRE . | GDD . | Death . | Associated genetic causesa . |
|---|---|---|---|---|---|---|
| Developmental and epileptic encephalopathies | 146 | 86.1 (72.7–101.3) | 120 (82%) | 134 (92%) | 11 (8%) | |
| Infantile spasms syndrome | 52 | 30.7 (22.9–40.2) | 27 (52%) | 42 (81%) | 1 (2%) | Trisomy 21 (6), CDKL5 (2), TSC1 (2), TSC2 (3), Trisomy 13, 16p13.11 deletion, 17p13.3 deletion (Miller-Dieker), IDIC15, ASAH1, CACNA1G, DEPDC5, PAFAH1B1, POLR1A. Total = 22 (42%) |
| Early infantile DEE (<3 months) | 17 | 10.0 (5.8–16.0) | 17 (100%) | 17 (100%) | 4 (24%) | CDKL5 (2), ALG3, CASK, CNTNAP1, COL4A1, FOXG1, KCNQ2, KCNT1, SCN2A, STXBP1, TUBA1A. Total = 12 (71%) |
| Dravet syndrome | 11 | 6.5 (3.2–10.0) | 11 (100%) | 9 (82%) | 0 (0%) | SCN1A (11). Total = 11 (100%) |
| Epilepsy with myoclonic atonic seizures | 9 | 5.3 (2.4–10.1) | 8 (89%) | 8 (89%) | 0 (0%) | 7q deletion, 16p11.2 deletion, NIPBL, SLC6A1, STX1B. Total = 5 (56%) |
| Alpers syndrome | 2 | 2 (100%) | 2 (100%) | 2 (100%) | POLG (2). Total = 2 (100%) | |
| Absences with eyelid myoclonia | 1 | 1 (100%) | 1 (100%) | 0 (0%) | CHD2. Total = 1 (100%) | |
| Other DEE | 54 | 31.9 (23.9–41.6) | 54 (100%) | 54 (100%) | 4 (7%) | 15q11-13 deletion (Angelman, 2), 16p11.2 deletion (2), PCDH19 (2), SLC6A1 (2), 1p36 deletion, 1q21.1–21.2 duplication, 17p13.3 deletion (Miller-Dieker), 17q12 deletion, marker chromosome 20, AMT (glycine encephalopathy), FOXG1, KCNQ2, SCN8A, TSC2, WT1. Total = 19 (35%) |
| Self-limited epilepsies | 37 | 21.8 (15.4–30.1) | 0 (0%) | 1 (3%) | 0 (0%) | |
| Self-limited neonatal epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 0 (0%) | 0 (0%) | KCNQ2 (5), KCNQ3 (3). Total = 8 (89%) |
| Self-limited infantile epilepsy | 24 | 14.2 (9.1–21.1) | 0 (0%) | 1 (4%) | 0 (0%) | PRRT2 (17), KCNA2, KCNQ2. Total = 19 (79%) |
| Myoclonic epilepsy of infancy | 4 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Other specific syndromes | 25 | 14.7 (9.5–21.8) | 0 (0%) | 2 (8%) | 0 (0%) | |
| Early onset absence epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 2 (22%) | 0 (0%) | |
| Epilepsy with myoclonic absences | 2 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Familial focal epilepsy | 1 | 0 (0%) | 0 (0%) | 0 (0%) | DEPDC5. Total = 1 (100%) | |
| Febrile seizures + | 10 | 5.9 (2.8–10.9) | 0 (0%) | 0 (0%) | 0 (0%) | SCN1A. Total = 1 (10%) |
| Panayioutopoulos syndrome | 3 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Unclassified epilepsies | 182 | 107.4 (92.3–124.2) | 19 (10%) | 56 (31%) | 2 (1%) | |
| Unclassified epilepsy | 58 | 34.2 (23.6–44.2) | 9 (19%) | 1 (2%) | 1 (2%) | SLC2A1 (3), SLC6A1 (4), 4p16.3-4p16.2 deletion, 16p11.2 deletion, CHD4, MAF1, PCDH19. Total = 12 (16%) |
| Unclassified focal and generalized epilepsy | 16 | 9.4 (5.4–15.3) | 3 (35%) | 2 (13%) | 0 (0%) | 7p deletion and 7q duplication, ATP7A, SLC2A1. Total = 3 (19%) |
| Unclassified focal epilepsy | 88 | 51.9 (41.6–64.0) | 12 (14%) | 29 (33%) | 1 (1%) | DEPDC5 (2), 16p11.2 duplication, Xp22.31 deletion, B3GALNT2 (Walker-Warburg), KCNQ2, MECP2, NEXMIF, PCDH19, SCN2A, SLC2A1. Total = 12 (14%) |
| Unclassified generalized epilepsy | 17 | 10.0 (5.8–16.0) | 3 (18%) | 5 (29%) | 0 (0%) | SCL2A1 (2), Xq12 deletion, CACNA1A. Total = 4 (24%) |
| Unclassified myoclonic epilepsy | 3 | 0 (0%) | 1 (33%) | 0 (0%) | SCL2A1. Total = 1 (33%) | |
| All drug-resistant epilepsiesb | 139 | 82.0 (59.4–96.8) | 116 (83%) | 10 (7%) |
| Syndrome . | n . | Incidence per 100 000 live births (95% CI) . | DRE . | GDD . | Death . | Associated genetic causesa . |
|---|---|---|---|---|---|---|
| Developmental and epileptic encephalopathies | 146 | 86.1 (72.7–101.3) | 120 (82%) | 134 (92%) | 11 (8%) | |
| Infantile spasms syndrome | 52 | 30.7 (22.9–40.2) | 27 (52%) | 42 (81%) | 1 (2%) | Trisomy 21 (6), CDKL5 (2), TSC1 (2), TSC2 (3), Trisomy 13, 16p13.11 deletion, 17p13.3 deletion (Miller-Dieker), IDIC15, ASAH1, CACNA1G, DEPDC5, PAFAH1B1, POLR1A. Total = 22 (42%) |
| Early infantile DEE (<3 months) | 17 | 10.0 (5.8–16.0) | 17 (100%) | 17 (100%) | 4 (24%) | CDKL5 (2), ALG3, CASK, CNTNAP1, COL4A1, FOXG1, KCNQ2, KCNT1, SCN2A, STXBP1, TUBA1A. Total = 12 (71%) |
| Dravet syndrome | 11 | 6.5 (3.2–10.0) | 11 (100%) | 9 (82%) | 0 (0%) | SCN1A (11). Total = 11 (100%) |
| Epilepsy with myoclonic atonic seizures | 9 | 5.3 (2.4–10.1) | 8 (89%) | 8 (89%) | 0 (0%) | 7q deletion, 16p11.2 deletion, NIPBL, SLC6A1, STX1B. Total = 5 (56%) |
| Alpers syndrome | 2 | 2 (100%) | 2 (100%) | 2 (100%) | POLG (2). Total = 2 (100%) | |
| Absences with eyelid myoclonia | 1 | 1 (100%) | 1 (100%) | 0 (0%) | CHD2. Total = 1 (100%) | |
| Other DEE | 54 | 31.9 (23.9–41.6) | 54 (100%) | 54 (100%) | 4 (7%) | 15q11-13 deletion (Angelman, 2), 16p11.2 deletion (2), PCDH19 (2), SLC6A1 (2), 1p36 deletion, 1q21.1–21.2 duplication, 17p13.3 deletion (Miller-Dieker), 17q12 deletion, marker chromosome 20, AMT (glycine encephalopathy), FOXG1, KCNQ2, SCN8A, TSC2, WT1. Total = 19 (35%) |
| Self-limited epilepsies | 37 | 21.8 (15.4–30.1) | 0 (0%) | 1 (3%) | 0 (0%) | |
| Self-limited neonatal epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 0 (0%) | 0 (0%) | KCNQ2 (5), KCNQ3 (3). Total = 8 (89%) |
| Self-limited infantile epilepsy | 24 | 14.2 (9.1–21.1) | 0 (0%) | 1 (4%) | 0 (0%) | PRRT2 (17), KCNA2, KCNQ2. Total = 19 (79%) |
| Myoclonic epilepsy of infancy | 4 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Other specific syndromes | 25 | 14.7 (9.5–21.8) | 0 (0%) | 2 (8%) | 0 (0%) | |
| Early onset absence epilepsy | 9 | 5.3 (2.4–10.1) | 0 (0%) | 2 (22%) | 0 (0%) | |
| Epilepsy with myoclonic absences | 2 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Familial focal epilepsy | 1 | 0 (0%) | 0 (0%) | 0 (0%) | DEPDC5. Total = 1 (100%) | |
| Febrile seizures + | 10 | 5.9 (2.8–10.9) | 0 (0%) | 0 (0%) | 0 (0%) | SCN1A. Total = 1 (10%) |
| Panayioutopoulos syndrome | 3 | 0 (0%) | 0 (0%) | 0 (0%) | ||
| Unclassified epilepsies | 182 | 107.4 (92.3–124.2) | 19 (10%) | 56 (31%) | 2 (1%) | |
| Unclassified epilepsy | 58 | 34.2 (23.6–44.2) | 9 (19%) | 1 (2%) | 1 (2%) | SLC2A1 (3), SLC6A1 (4), 4p16.3-4p16.2 deletion, 16p11.2 deletion, CHD4, MAF1, PCDH19. Total = 12 (16%) |
| Unclassified focal and generalized epilepsy | 16 | 9.4 (5.4–15.3) | 3 (35%) | 2 (13%) | 0 (0%) | 7p deletion and 7q duplication, ATP7A, SLC2A1. Total = 3 (19%) |
| Unclassified focal epilepsy | 88 | 51.9 (41.6–64.0) | 12 (14%) | 29 (33%) | 1 (1%) | DEPDC5 (2), 16p11.2 duplication, Xp22.31 deletion, B3GALNT2 (Walker-Warburg), KCNQ2, MECP2, NEXMIF, PCDH19, SCN2A, SLC2A1. Total = 12 (14%) |
| Unclassified generalized epilepsy | 17 | 10.0 (5.8–16.0) | 3 (18%) | 5 (29%) | 0 (0%) | SCL2A1 (2), Xq12 deletion, CACNA1A. Total = 4 (24%) |
| Unclassified myoclonic epilepsy | 3 | 0 (0%) | 1 (33%) | 0 (0%) | SCL2A1. Total = 1 (33%) | |
| All drug-resistant epilepsiesb | 139 | 82.0 (59.4–96.8) | 116 (83%) | 10 (7%) |
DEE = developmental and epileptic encephalopathy; IDIC15 = isodicentric chromosome 15. aIf more than one patient, number is given in parentheses. bNote that ‘All drug-resistant epilepsies’ is not a syndrome.
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