TABLE 1.
Summary of CNTN2 mutations and main clinical features.
| Stogmann et al. (2013) | This report | |||||
|---|---|---|---|---|---|---|
| Individual (sex) | 1 (M) | 2 (F) | 3 (F) | 4 (F) | 5 (F) | 6 (M) |
| Mutation (NM_005076.5) | p.Trp168fs | p.Thr958Thrfs*17 | ||||
| Age at seizure onset (years) | 11 | 14 | 11 | 12 | 11 | 6 |
| Age at follow-up (years) | 39 | 37 | 29 | 24 | 21 | 10.7 (age at last follow-up) |
| Seizure type | GTCS, CPS | GTCS, CPS | GTCS, CPS | GTCS, CPS | GTCS, CPS | GTCS, CPS |
| Aura | — | — | — | — | — | − |
| Cortical tremor | + | + | + | + | + | − |
| Myoclonic jerks | − | + | + | + | − | − |
| Cognitive function | NA | IQ 85 | IQ 86 | IQ 79 | IQ 78 | Learning difficulties, memory deficits, ADHD traits |
| Mental disorder | — | — | — | Depressive symptoms | Depressive symptoms | Aggressive, impulsive |
| Cranial MRI/CT | Normal | Normal | Normal | Normal | MRI bilateral mS | Normal |
| EEG | — | Temporal IEDs | Normal | Tempoparietal IEDs | Temporal IEDs | T-F IEDs; ictal: T, F onset |
| AEDs | CBZ | CBZ | CBZ | CBZ, LTG | CBZ | VPA, OXC |
| Outcomes of AEDs | Good | Good | Good | Poor | Good | Good |
M, male; F, female; GTCS, generalized tonic-clonic seizure; CPS, complex partial seizure; IQ, intelligence quotient; OXC, oxcarbazepine; VPA, valproate; LTG, lamotrigine; NA, not available; IED, interictal epileptic discharge; T, temporal; F, frontal; ADHD, attention-deficit hyperactivity disorder; mS, mesial sclerosis.