Table 3.
Clinical description of female cases presented; detailed epilepsy phenotypes
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | Ref. 9 | Ref. 10 | Ref. 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age | 26 | 9 | 25 | 11 | 36 | 2,5 | 9 | 18 | 5,5 | 2,3 | 53 | 11 | 51 (deceased) |
8,5 |
26 | 13 | 17 |
| Mutation | c.4185del p.Lys 1396fs | c.438 C>A p.Cys 146* | c.2042del p.Gly681fs | c.964 C>T p.Arg322* | c.2201_2202 delAA p.Lys734 Serfs*24 |
c.1441 C>T p.Arg481* |
c.3053-3066 del14 p.Gly1018 Aspfs*2 | del exon1 | c.1582delA p.Arg 528Glufs*4 |
c.1882C>T p.Arg 628* |
c.2725del p.Ala909 Profs*13 |
c.652 C>T p.Arg 218* |
c.952C>T p.Gln 318* | c.3596_3597 insA p.Lys 1199Asnfs |
46,X,t (X;3) (q13;q11) | c.1882 C>T p.Arg 628* | c.964C>T p.R322* |
| XCI | 57:43 (random) |
70:30 (random) |
52:48 (random) |
63:37 (random) | 100% skewing | 62:38 (random) |
64:36 (random) |
100% skewing | 65:35 (random) |
73:27 (borderline skewed) |
|||||||
| KIAA2022 expression (ratio) | 0,000624456 | 0,00029598 | 0,000355424 | 0,000256076 | Absent | absent | |||||||||||
| Degree of ID | +/− to + | + | +/− | +/− | + to ++ | + | +/− to + | + to ++ | + | +/− | − | + | ++ | + | ++ | +/− | ++ |
| Seizures | + | + | + | + | + | − | + | + | + | − | + | + | + | + | − | − | + |
| Age seizure onset (months) | 8 | 8 | 72 | 30 | 36 | 24 | 24 | 14 | 192–216 | 24 | 84 | 36 |
18 | ||||
| Generalised | + | + | + | + | + | − | + | − | + | − | + | + | + | + | − | − | + |
| Myoclonic | + | + | + | + | + | − | + | − | + | − | ? | + | + | + | − | − | ? |
| Typical absence | − | + | + | − | + | − | + | − | + | − | + | + | − | − | − | − | + |
| Myoclonic absence | − | − | + | − | − | − | + | − | + | − | ? | − | − | + | − | − | ? |
| Tonic | − | − | − | + | − | − | − | − | + | − | − | − | − | + | − | − | + |
| Atonic | − | + | − | + | − | − | − | − | + | − | − | − | + | + | − | − | + |
| Clonic | − | − | − | − | − | − | − | + | − | − | − | + | − | + | − | − | − |
| GTCS | + | + | + | − | + | − | − | − | + | − | − | + | + | − | − | − | + |
| Focal | − | + | − | + | Probably not | − | − | + | − | − | − | + | − | − | − | − | − |
| Spasms | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
| Status epilepticus | − | + | − | ? | + | − | ? | + | ? | − | ? | + | + | − | − | − | ? |
| Other seizure types | − | − | − | − | − | − | Automatisms (focal seizures?) | − | − | − | ? | − | − | − | − | − | ? |
| Photosensitivity | − | + | + | ? | − | − | − | − | ? | − | − | − | ? | − | − | − | ? |
| EEG | PSW | PSW, ECS | PSW, ECS | PSW, focal discharges | Generalised SWC and PSW | Normal | PSW | PSW, right focal discharges | Background slowing and generalised and multifocal epileptiform discharges | Normal | ? | Mixed generalised (PSW and slow wave) and focal discharges | Interictal: featureless; ictal: bifrontal PSW, fast activity, evolving into diffuse slow rhythmic activity; ECS | Interictal: generalised SWC and PSW; ictal: PSW concomitant with palpebral clonia or atonic fall |
? | ? | Suggestive of multifocal and generalised epilepsy |
| Seizure outcome | Ongoing despite AED | Ongoing despite AED | Ongoing despite AED | Ongoing despite AED | Ongoing despite AED | n.a. | Ongoing despite AED | Ongoing despite AED | Ongoing despite AED | n.a. | Ongoing despite AED | Ongoing despite AED | Ongoing until death despite AED | Ongoing despite AED | n.a. | n.a. | Ongoing despite AED |
−, absent; +/−, mild; +, moderate; ++, severe; ?, unknown. AED, anti-epileptic drugs; ECS, eye-closing sensitivity; GTCS, generalized tonic-clonic seizure; ID, intellectual disability; n.a., not applicable; PSW, polyspike waves; SWC, spike wave complex; XCI, X-chromosome inactivation.