Andersen–Tawil syndrome

Also known as: Andersen–Tawil syndrome

Periodic paralysis with cardiac arrhythmia and dysmorphic features.

Medical specialty: Neurology
Subspecialty: Neurology / Channelopathies; Cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, usually onset in first or second decade
Gene(s) involved: KCNJ2, KCNJ5

Etiology & mechanism

Loss-of-function mutation in the Kir2.1 inward rectifier potassium channel.

Gene(s) involved (2)

KCNJ2KCNJ5

Symptoms & signs (6)

clinodactylyepisodic weaknesslong qtlow-set earsshort statureventricular arrhythmias

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