Table 1 Differential diagnosis among idiopathic EMA, symptomatic EMA, CAE and Jeavons syndrome
| Â | Idiopathic EMA | Symptomatic EMA | CAE | Jeavons syndrome |
|---|---|---|---|---|
Age at onset | 6 months−12.5 years | 6 months−12.5 years | 4−10 years | 2−14 years |
Sex ratio | males: females = 7: 3 | males: females = 7: 3 | males: females = 2.5−4: 6−7.5 | males: females = 1: 2 |
Prevalence | 0.5−1% of all epilepsies | 0.5−1% of all epilepsies | 0.4−0.7‰ of all persons | 1.2−2.7% of all epilepsies |
Family history | 20−25% | 20−25% | 15−44% | 25−83% |
Seizure type | myoclonic absence seizures | myoclonic absence seizures, GTCS, clonic, atonic, typical absence seizures | typical absence seizures | eyelid myoclonia with/without absence, typical absence, GTCS, myoclonic seizures |
Seizure frequency | several ten times per day | several ten times per day | daily seizure | daily seizure |
Chromozomal anomalies/gene mutation | Trisomy 12p maternal deletion of 15q11-q13, 15q inversion—deletion, 2q13 microdeletion GDH, SLC2A1, SYNGAP1, SETD1B, FOXP1, MBD5 gene | none | recurrent CNVs (e.g., 15q11.2, 15q13.3, and 16p13.11 microdeletion) SLC2A1, GABRG2, GABRA1 gene [23] | CHD2, NEXMIF104/KIAA2022, NAA10, SYNGAP1, RORB gene [28] |
MRI | normal | abnormal | normal | normal |
EEG | BG: normal, OIRDA is rare IID: 3 Hz GSWDs ID: 3 Hz GSWDs time-locked with myoclonic jerks | BG: abnormal, OIRDA is rare IID: frequent isolated spike or irregular SWs over the anterior regions ID: 3 Hz GSWDs time-locked with myoclonic jerks | BG: normal, OIRDA in 21–30% IID: awake: 2.5−4 Hz GSW asleep: polyspike and wave may be seen in drowsiness and sleep only ID: 3 Hz GSWDs | BG: normal, frequent OIRDA IID: 3−6 Hz rregular generalized polyspike-and-wave complexes ID: eye-closure and IPS induced 3 Hz GSWDs |
ASMs | ETX, VPA, LTG | ETX, VPA, LTG | ETX, VPA, LTG | VPA, BZDs, LEV |
Prognosis | eventually remit | myoclonic absences persist and may evolve into a cryptogenic or symptomatic epilepsy syndrome. intellectual disability may become evident with age multiple seizure types may indicate a more unfavorable prognosis | absence seizures disappear with age in more than 90% | often drug-resistant, requiring lifelong treatment 20% of patients develop eyelid myoclonic status epilepticus |