Table 1 Clinical characteristics of the patients with genetically-confirmed EA.
From: Genetic Variants Associated with Episodic Ataxia in Korea
Patient No | Sex/age | Age of onset | Genetic variants | Duration | Ictal symptoms | Interictal nystagmus | Additional features | Response to acetazolamide |
|---|---|---|---|---|---|---|---|---|
Family Hx. (+) | ||||||||
  1 | M/27 | 19 | CACNA1A | minutes-hours | ataxia, vertigo, dysarthria, diplopia | DB | (−) | (+) |
  2 | M/48 | teenage | CACNA1A UBR4 | hours | ataxia, dysarthria | DB | cerebellar atrophy | NP |
  3 | F/4 | 3 | CACNA1A SLC1A3 | hours | ataxia, dizziness | GEN | seizure | (+) |
  4 | M/21 | 12 | CACNA1A | hours | ataxia, vertigo, headache | DB | migraine | (+) |
  5 | M/41 | 9 | CACNA1A UBR4 | hours | ataxia, dizziness, dysarthria | GEN | migraine | (+) |
  6 | M/62 | 55 | SLC1A3 | hours | ataxia, dizziness, dysarthria | DB | mild truncal ataxia | (+) |
  11 | M/68 | 53 | TTBK2 | hours | ataxia, vertigo | (−) | (−) | (−) |
  12 | M/56 | 54 | TGM6 | hours | ataxia, vertigo, dysarthria | GEN | (−) | (−) |
Family Hx. (−) | ||||||||
  15 | M/39 | 34 | CACNA1A | seconds-minutes | dizziness | GEN | (−) | (−) |
  16 | M/33 | 33 | CACNA1A | hours | ataxia, vertigo, headache, tinnitus | GEN | (−) | (−) |
  19 | F/49 | 47 | ATP1A2 | days | ataxia, vertigo, dysarthria, weakness | (−) | intermittent LOC, migraine | (+) |
  22 | F/37 | 30 | SCN1A | hours | dizziness, headache | DB | migraine | (−) |
  23 | M/45 | 38 | SLC1A3 | hours | ataxia, dizziness, dysarthria | GEN | rebound upbeat nystagmus, cognitive impairment | (−) |
  26 | F/54 | 53 | UBR4 | seconds-minutes | dizziness | GEN | (−) | NP |
  28 | F/52 | 49 | UBR4 | hours | ataxia, vertigo, tinnitus | (−) | (−) | NP |
  30 | F/62 | 60 | SCN1A | hours | vertigo, diplopia | GEN | (−) | (−) |
  32 | M/46 | 39 | FGF14 | hours | dizziness, headache | DB | (−) | (+) |
  33 | F/17 | 17 | KCND3 | minutes-hours | ataxia, vertigo, dysarthria | GEN | earfullness | NP |
