TABLE 1.
Clinical feature of the individuals with CACNA1A mutations.
| Case | Mutation (NM_001127222) | Gender | Age | Onset age | Seizure course | Seizure-free duration | Effective AEDs | EEG | Brain imaging | Development | Diagnosis |
| Case 1 | p.Gly989Argfs*78 | Female | 24 yr | 3 yr | SPS, 1–2/mo and up to 2/wk for 9 yr | 12 yr | VPA | Diffuse SW, irregular sharp and spike waves | Normal | Normal | PE |
| Case 2 | c.3089 + 1G > A | Female | 3 yr | 1 yr | 1–2/mo for 1 yr | 1 yr | VPA | Bilateral occipital SSW | Normal | Normal | PE |
| Case 3 | c.4755 + 1G > T | Female | 9 yr | 2 yr | FS twice at 2 yr, Ab, 10–20/d from 8 yr to 8.5 yr | 0.5 yr | VPA | Ictal: 10 Ab; interictal: paroxysmal 3 HZ SSW. | Normal | Normal | CAE |
| Case 4 | c.6340-1G > A | Male | 10 yr | 6 yr | Ab, 5–6/d for 2 yr | 2 yr | VPA | Paroxysmal generalized 3 Hz SSW | Normal | Normal | CAE |
| Case 5 | p.Arg68Leu | Female | 21 yr | 11 yr | sGTCS, 1–2/mo for 6 yr | 4 yr | VPA, LTG | Right frontal and temporal spikes and FSW | Normal | ID | PE, ID |
| Case 6 | p.Gly1322Glu | Female | 4 yr | 3 mo | sGTCS and CPS, 3–4/d for 1.5 yr | 2 yr | VPA, LTG | Left parietal and temporal sharp waves and FSW | Normal | ID | PE, ID |
| Case 7 | p.Arg1678Cys | Male | 13 yr | 10 yr | SPS, 1–2/mo for 2 yr | 1 yr | OXC | Bilateral occipital sharp waves | Normal | Normal | PE |
| Case 8 | p.Ser1798Leu | Male | 5 yr | 1.5 yr | sGTCS and CPS, 1–2/mo for 2.5 yr | 1 yr | VPA | Bilateral occipital spikes and FSW | Normal | ID | PE, ID |
| Case 9 | p.Ser1078Leu p.Glu2021Lys |
Female | 7 yr | 4 yr | FS once at 4 yr, sGTCS and CPS, 1–4/wk for 2 yr | 1 yr | VPA, OXC | Bilateral frontal and central sharp waves | Normal | Normal | PE |
| Case 10 | p.Ile1631Val p.Pro1993Leu |
Male | 10 yr | 1 yr | FS 1–2/yr for 4 yr, CPS once at 7 yr | 3 yr | LEV | Left parietal and temporal spikes | Normal | Normal | PE |
Ab, absence; AEDs, antiepileptic drugs; CAE, childhood absence epilepsy; CPS, complex partial seizure; d, days; EEG, electroencephalogram; FS, febrile seizure; FSW, focal sharp and slow wave; ID, intellectual disability; LEV, levetiracetam; LTG, lamotrigine; mo, months; OXC, oxcarbazepine; PE, partial epilepsy; sGTCS, secondary generalized tonic-clonic seizure; SPS, simple partial seizure; SSW, spike and slow wave; SW, slow waves; VPA, valproate; wk, weeks; yr, years.