Table 1.
Clinical and genetic information of the 20 children with monogenic etiologies of DRE.
| PN | Gender | Age at seizure onset | Age at VNS implantation | Seizure type /epilepsy syndrome | Development at VNS implantation | ASM /other treatments before VNS | Pathogenic gene; inheritance | Phenotype (MIM number) | Seizure outcome at last visit |
|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 4 m | 3 y 6 m | GTCS, F/DS | Severe DD | VPA, LTG, LEV, TPM, PER | SCN1A; AD | Dravet syndrome (607208) | 60% reduction in seizures |
| 2 | F | 6 m | 6 y 1 m | GTCS, F /DS | Severe DD | VPA, TPM, LEV, OXC, ZNS, CLB | SCN1A; AD | Dravet syndrome (607208) | 60% reduction of seizures |
| 3 | F | 6 m | 4 y 9 m | F, M/DS | Severe DD | VPA, OXC, LEV, LTG, TPM, CLB, CZP | SCN1A; AD | Dravet syndrome (607208) | 60% reduction in seizures |
| 4 | F | 3 m | 7 y 11 m | F, GTCS/DS | Severe ID | LEV, OXC, PB, LTG, TPM, ZNS | SCN1A; AD | Dravet syndrome (607208) | No reduction in seizures |
| 5 | F | 15 d | 1 y 7 m | F, S | Severe DD | LTG, TPM, VGB, VPA | DNM1; AD | Developmental and epileptic encephalopathy, type 31 (616346) | 60% reduction in Seizures |
| 6 | F | 14 d | 2 y 3 m | F, S | Severe DD | CBZ, LTG, TPM, VGB, CZP, PB, VPA, LEV | DNM1; AD | Developmental and epileptic encephalopathy, type 31 (616346) | No reduction in seizures |
| 7 | M | 8 y 6 m | 9 y 5 m | M, A, AA, T/LGS | Severe DD | VPA, LTG, LEV, PER, CLB | 0.331Mb duplication of X q28 (MECP2); XLD | Rett syndrome (312750) | Seizure freedom |
| 8 | M | 1 y 1 m | 4 y 7 m | S, F, AA | Severe DD | VPA, TPM, CZP, KD, RFM, CLB, LCM | SLC35A2; XLD | Developmental and epileptic encephalopathy, type22 (300896) | Seizure freedom |
| 9 | M | 3 y 2 m | 4 y 10 m | T, M, AA/LGS | Severe DD | VPA, LTG, LEV | CIC; AD | Mental retardation, autosomal dominant 45 (617600) | 75% reduction of seizures |
| 10 | F | 3 y 4 m | 4 y 4 m | F, GTCS | Moderate DD | LEV, VPA, CZP, TPM | MBD5; AD | Intellectual developmental disorder, autosomal dominant 1 (156200) | 90% reduction in seizures |
| 11 | M | 7 m | 5 y 3 m | F, AA | Mild ID | LEV, VPA, LTG, TPM, PER, KD | TUBGCP6; AR | Microcephaly and chorioretinopathy, autosomal recessive, 1 (251270) | 60% reduction in seizures |
| 12 | M | 4 m | 3 y 1 m | M, A | Mild DD | VPA, LTG, LEV, CZP, TPM | EEF1A2; AD | Developmental and epileptic encephalopathy 33 (616409) | 80% reduction in seizures |
| 13 | F | 5 m | 9 y 1 m | AA, M, T, A, S | Moderate ID | VPA, LEV, CZP, TPM, LTG, VGB, RFM | CHD2; AD | Developmental and epileptic encephalopathy 94 (615369) | 90% reduction in seizures |
| 14 | F | 8 y 9 m | 16 y 9 m | F | Mild ID | VPA, LTG, LCM, CBZ, OXC, TPM, LEV | LGI1; AD | Epilepsy, familial temporal lobe, 1 (600512) | No reduction in seizures |
| 15 | M | 3 m | 4 y 7 m | T, S | Severe DD | VPA, TPM, CZP, VGB, LTG, CLB, ACTH, KD | STXBP1; AD | Developmental and epileptic encephalopathy 4 (612164) | No reduction in seizures |
| 16 | F | 1 y 3 m | 3 y 5 m | S, AA, F | Severe DD | VGB, VPA, TPM, ACTH, CLB | GRIN2D; AD | Developmental and epileptic encephalopathy 46 (617162) | No reduction in seizures |
| 17 | M | 1 y 2 m | 3 y 2 m | S, AA, M, T /LGS | Severe DD | VPA, ZNS, LTG, TPM, LEV, VGB, ACTH, PER, CLB, KD | RANBP2; AD | Encephalopathy, acute, infection-induced, 3, susceptibility to (608033) | No reduction in seizures |
| 18 | M | 4 m | 5 y 1 m | S, F | Severe DD | VGB, LTG, VPA, OXC, TPM, LEV, ACTH, KD | TSC2; AD | Tuberous sclerosis-2 (613254) | No reduction in seizures |
| 19 | F | 1 y 3 m | 3 y 3 m | AA, M, T, F, /LGS | Severe DD | LEV, LCM, VPA, OXC, TPM | SZT2; AR | Developmental and epileptic encephalopathy 18 (615476) | No reduction in seizures |
| 20 | M | 6 m | 4 y 5 m | F, AA, M, T, S/LGS | Severe DD | OXC, VPA, LTG, TPM, CZP, CLB, RFM, LCM | CHRNA4; AD | Epilepsy, nocturnal frontal lobe, 1 (600513) | No reduction in seizures |
T, Tonic seizures; S, Spasms; F, Focal seizures; AA, Atypical absence; M, Myoclonic seizures; A, atonic seizures; DD, development dalay; ID, intellectual disability.
VPA, Valproic acid; TPM, Topiramate; CZP, Clonazepam; CLB, Clobazam; RFM, Rufinamide; LCM, Lacosamide; VGB, Vigabatrin; LTG, Lamotrigine; PER, Perampanel; ACTH, Adrenocorticotropic hormone; KD, Ketogenic diet. CBZ, Carbamazepine; PB, Phenobarbital; LEV, Levetiracetam; ZNS, Zonisamide; OXC, Oxcarbazepine; GTCS, General tonic-clonic seizures; LGS, Lennox-Gastaut Syndrome; DS, Dravet syndrome; PN, Patient number; y, year; m, month. AD, autosomal dominant. AR, autosomal recessive. XLD, X-linked dominant.