Table 1 Summary of clinical phenotypes and prior genetic testing for each EIEE subject
Subject | Gender | Age at onset | Clinical details | Prior genetic testing (all results normal) |
|---|---|---|---|---|
1 | M | <1 mos. | Seizure types: Generalized tonic, myoclonic Clinical features: GDD, hypotonia, dysphagia, hydronephrosis, EEG features: Slow and disorganized background, multifocal and generalized SW discharges MRI: Abnormal T1 signal in basal ganglia, mesial temporal lobes | Chromosomal microarray, STXBP1*, MECP2*^, ARX*^, CDKL5* |
2 | F | 2 mos. | Seizure types: GTC, generalized tonic, myoclonic, flexor spasms, atonic Clinical features: GDD, dysphagia, cortical visual impairment, microcephaly EEG features: Slow and disorganized background, generalized SW discharges MRI: Normal | Chromosomal microarray, SLC2A1* |
3 | F | <1 mos. | Seizure types: Generalized tonic, flexor spasms Clinical features: HIE, GDD, chronic respiratory failure, spasticity, dysphagia, cardiac arrest EEG features: Slow background, frontal SW discharges MRI: Abnormal diffusion restriction bifrontal and left temporal | Chromosomal microarray |
4 | M | <1 mos. | Seizure types: Generalized tonic Clinical features: Hypotonia, GDD, cerebral palsy, dysphagia EEG features: Slow background, multifocal and generalized SW discharges MRI: Delayed myelination | PLP1^ |
5 | F | 2 mos. | Seizure types: Focal onset with secondary GTC Clinical features: GDD, postnatal microcephaly, spastic quadriparetic CP, chorea, dystonia EEG features: Focal slowing MRI: Normal | Chromosomal microarray, STXBP1*^, CLN2+, CLN3+, ARX*^, Early Infantile Epilepsy Panel, Febrile Seizures Panel |
6 | F | <1 mos. | Seizure types: Migrating partial seizures, myoclonic, flexor spasm Clinical features: GDD, dysphagia, quadriparetic spastic cerebral palsy EEG features: Generalized and multifocal SW discharges MRI: Normal | Chromosomal microarray, DNA methylation, MECP2*, CDKL5* |
7 | M | 1 mos. | Seizure types: Generalized clonic seizures, GTC, flexor spasms, tonic spasms Clinical features: GDD EEG features: Slow background, multifocal and generalized SW MRI: Normal | None |
8 | F | <1 mos. | Seizure types: GTC, focal tonic Clinical features: GDD, hypotonia, cerebral palsy, postnatal microcephaly EEG features: Discontinuous, multifocal SW MRI: Normal | MECP2*, ARX*, DNA methylation, Early Infantile Epilepsy Panel, Comprehensive Epilepsy Panel |
9 | F | 6 mos. | Seizure types: Myoclonic, atonic, myoclonic, partial seizures, GTC, atypical absence Clinical features: Postnatal microcephaly, hypotonia, GDD, polymyoclonus EEG features: 1-2hz delta, generalized SW MRI: Delayed myelination | Chromosomal microarray, DNA methylation, MECP2*^, Rett-like Disorders Panel, Comprehensive Epilepsy Panel |
10 | M | 4 mos. | Seizure types: Flexor spasms, tonic spasms, GTC Clinical features: GDD, spastic cerebral palsy, postnatal microcephaly EEG features: Hypsarrhythmia, multifocal SW MRI: Delayed myelination | Chromosomal microarray, ARX* |
11 | F | 2 mos. | Seizure types: Migrating focal tonic clonic, generalized tonic, myoclonic, atonic Clinical features: GDD, macrosomia, tremor, hypotonia EEG features: Focal SW discharges MRI: Abnormal periventricular white matter T2 signal | Chromosomal microarray |
12 | M | 6 mos. | Seizure types: Generalized tonic spasms, atonic Clinical features: GDD, hypotonia, constipation EEG features: Slow and disorganized background, multifocal and generalized SW MRI: Normal | None |
13 | F | 4 mos. | Seizure types: Hemiclonic, prolonged febrile, GTC, focal tonic Clinical features: Language delay EEG features: Focal slowing, generalized SW MRI: Normal | SCNA1* |
14 | F | <1 mos. | Seizure types: GTC, absence, complex partial Clinical features: GDD, hypotonia, dysphagia, spasticity EEG features: Slow and disorganized background, suppression burst MRI: Normal | Chromosomal microarray, DNA methylation, SCN1A* |
