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J Neurol Neurosurg Psychiatry 74:1339-1341 doi:10.1136/jnnp.74.9.1339
  • Short report

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

Table 1

Clinical characteristics of the affected individuals

ID Sex (age) Age at onset of paralytic attacks Frequency of paralytic attacks HyperK+ during attacks Duration of episodes Precipitant factors Cardiac arrhythmia Response to drugs Site of paramyotonia
RAE, rest after exercise; CTH, cold temperature and humidity; ACZ, acetazolamide; CT, chlorothiazide; SLB, salbutamol.
II:2 F (81) <1 y 1/day no 1–15 min fasting, CTH no
II:3 F (79) <1 y 1–3/day 20 min RAE, CTH, stress
II:4 F (76) <1 y 1–3/day 10 min fasting, CTH yes
II:6 M (73) <1 y 1/day no 20 min RAE, fasting, carrots yes no (ACZ, CT) hand
III:1 M (46) 6–7 months 1–2/day no 10 min–2 h RAE, fasting, CTH, alcohol no no (ACZ) eyes, hand
III:3 M (45) 8 months 1–2/day no 1 h no no (ACZ, SLB) eyes
III:5 M (38) 9 months 2–3/day no 15 min RAE, CTH no no (ACZ)
IV:1 M (18) 6 months 1–2/week yes 20 min RAE, fasting, CTH eyes, hand
IV:2 M (16) 8 months 1–2/week 20 min RAE, CTH

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