Table 2.
Patient data and clinical summary (details in online Supplemental Material S2)
| Episodic Ataxia |
Epilepsy |
|||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient | Sex | Onset (years) | EA features | IN | ACZ response | FH | Seizures | EEG | Additional features | Genetics |
| 1 | F | <1 | Ataxia; abnormal eye movements | N | Good | N | GTCS | Normal | — | — |
| 2 | F | 1.5 | Ataxia; tremor | N | Not tested | N | GTCS, absence | Normal | — | — |
| 3 | F | 12 | Ataxia; poor coordination | N | Good | Y | None | Spike wave epileptiform EEG | — | — |
| 4 | F | 12 | Ataxia; vertigo; vomiting | N | Excellent | N | TLE, FC | Generalized SWD; focal slowing, left temporal emphasis | — | G540R |
| 5 | M | 2 | Ataxia; vertigo; vomiting | Y | Good | N | None | 3 Hz SWD | — | L621R |
| 6 | M | 6 | Ataxia; vertigo | Y | Good | N | Absence | 3 Hz SWD | LD | G1105S |
| 7 | F | 1 | Ataxia; dizziness; dysarthria | N | Not tested | N | CPS, SPS | Generalized and focal interictal discharges, right parietal emphasis | Alternating hemiplegia | E921D E993V |
| 8 | M | 2 | Ataxia; dysarthria; dizziness | N | Good | Y | GTCS, | Generalized epileptiform activity; mild photosensitivity | — | E921D E993V |
| 9 | F | 21 | Ataxia; vomiting; vertigo | N | Excellent | N | GTCS, CPS | Normal | — | E921D E993V |
| 10 | M | 8 | Ataxia; abnormal eye movements; dizziness | N | Not tested | N | Myoclonic astatic | Generalised 2–3 Hz spike wave activity | Autism; LD | E921D E993V |
| 11 | M | 50 | Ataxia; vertigo; vomiting; oscillopsia | Y | Good | Y | GTCS | Burst of sharp waves over frontotemporal region; SWD | — | E921D E993V |
| 12 | F | <1 | Ataxia; vertigo; dysarthria; vomiting | N | Good | N | Absence, CPS | Normal | LD | E921D E993V |
| 13 | M | 10 | Ataxia; vomiting; dysarthria | N | Not tested | Y | CPS | SWD: Irregular slow | — | E921D E993V |
| 14 | M | 1 | Ataxia; dysarthria | N | Excellent | N | GTCS | Normal | — | E921D E993V |
| 15 | F | 2 | Ataxia; dysarthria | N | Not tested | N | GTCS | Paroxysmal bursts bilaterally; photosensitivity | Chorea | E921D E993V, E1018K |
| 16 | F | 5 | Ataxia; vertigo; dysarthria | Y | No | N | None | Epileptiform EEG | — | Deletion of exon 27 |
| 17 | M | 10 | Ataxia; vertigo; vomiting | Y | Good | N | Absence | 3Hz SWD | — | Deletion of exons 39–47 |
IN, interictal nystagmus; FH, family history; GTCS, generalised tonic-clonic seizures; TLE, temporal lobe epilepsy; FC, febrile convulsions; SPS, simple partial seizures; CPS, complex partial seizures; LD, learning difficulties.