Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.
J Child Neurol
; 25(4): 490-3, 2010 Apr.
Article
in En
| MEDLINE
| ID: mdl-20382953
Andersen cardiodysrhythmic periodic paralysis or Andersen-Tawil syndrome includes the distinct clinical features of periodic paralysis, cardiac arrhythmia, and facial and skeletal dysmorphisms and exhibits autosomal dominant inheritance. Mutations in the KCNJ2 gene, which encodes the human inward rectifier potassium channel Kir2.1, have been identified in the majority of cases. Despite well-established clinical and molecular characteristics, treatment is still case oriented, and timely diagnosis could be delayed because of the low incidence and phenotypic heterogeneity of this disease. This article describes the clinical and molecular features of 3 cases of Andersen-Tawil syndrome in 2 families. One of the mutations (G144D) was located in the pore selectivity filter residue (which is mutated recurrently) and was considered novel. Intermittent muscle weakness in childhood warrants careful evaluation of cardiac dysrhythmia and skeletal anomalies.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Paralyses, Familial Periodic
/
Genetic Predisposition to Disease
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Potassium Channels, Inwardly Rectifying
/
Andersen Syndrome
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
J Child Neurol
Year:
2010
Document type:
Article