Table 1.
Clinical presentation of affected siblings and comparison to previously reported patients.
| Family 1 | Family 2 | Strauss (2006)a | Gregor (2011)b | Smogavec (2016)c | |||
|---|---|---|---|---|---|---|---|
| V-2 | V-4 | III-4 | III-5 | ||||
| Current age | 13 years | 10 years | 7 years | 5 years | NA | NA | NA |
| Epilepsy syndrome | Primary generalized epilepsy | Focal onset epilepsy | Focal onset epilepsy | Focal onset epilepsy | Focal epilepsy | 5/7 with epilepsy | Complex focal, generalized epilepsy |
| Age of seizure onset | 3 years | 2.5 years | 3 years | 2.5 years | 14–20 months | 3 months−3 years | 5 months−3 years |
| Primary seizure type | Generalized tonic-clonic | Focal onset aware (Partial) | Focal | Left side tonic followed by generalized tonic-clonic | 9/9—Focal Onset Aware 4/9—Secondary generalized |
Complex | ND |
| Current AEDs | Valproic Acid, Diazepam, Clonazepam, Risperidone | Carbamazepine, Valproic Acid, Levetiracetam, Clonazepam, Methylphenidate | Carbamazepine and Lamotrigine | Carbamazepine, Valproic Acid | ND | ND | Lamotrigine (3/8), Cabamazepine (2/8), Valproate (2/8), Levetiracetam (1/8), Oxcarbazepine (1/8), Phenobarbitone (1/8), Zonisamide (1/8) |
| Seizures controlled? | Some breakthrough seizures | No | No (daily seizures) | No | ND | 2/5—No | 2/8—No |
| Intellectual Disability | Moderate | Moderate | Yes | Yes | 9/9 | 7/7 (Moderate to Severe) | 8/8 (Moderate to Severe) |
| Developmental Delay | Yes, with speech regression | Yes, with speech regression | Yes, poor speech and language | Yes, poor speech abilities | 9/9—with speech regression | 7/7 4/7–No speech 1/7–Simple Sentences |
6/8— <10 words 2/8—Simple sentences |
| Autism spectrum disorder | Yes | Yes | Poor social abilities | Poor social abilities | 6/9 | ND | ND |
| EEG | 4 years: frequent brief generalized high amplitude SWDs | 7 years: frequent high amplitude spike discharges in left frontotemporal region | Confirmed seizures of temporal lobe origin | Interictal frontotemporal epileptiform abnormalities and post-ictal temporal slowing on left side | 7/9 – normal background, seizures arising from temporal (occasionally frontal) regions with unilateral high-amplitude spike-slow-wave discharges or focal slowing | ND | Generalized slowing (1/8), occasional spikes and slowing left temporal (1/8), frequent left frontotemporal epileptiform discharges (1/8), slow rhythm, sometimes with epileptic discharges (2/8), diffuse cerebral dysfunction (1/8) |
| Other Behavioral Features | Aggression, until 4 years | Aggression | Aggression | Aggression | ND | 1/7—Autoagressive behavior | 2/8—Aggression 2/8—Notable temper tantrums |
| Other Features | Body movement imbalance (mild) | Body movement imbalance (mild) | Stereotypic hand flapping movements, post-natal microcephaly | Stereotypic hand flapping movements | ND | 1/7—Hypotonia | 2/8—Hypotonia 2/8—Ataxia |