Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024591 (
malignant hyperthermia
)
2,353
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Episodic ataxia type 1 (EA1) is an autosomal dominant channelopathy caused by mutations in
KCNA1
, which encodes the voltage-gated potassium channel,
Kv1.1
. Eleven members of an EA family were evaluated with molecular and functional studies. A novel c.746T>G (p.Phe249Cys) missense mutation of
KCNA1
segregated in the family members with episodic ataxia, myokymia, and
malignant hyperthermia
susceptibility. No mutations were found in the known
malignant hyperthermia
genes RYR1 or CACNA1S. The Phe249Cys-
Kv1.1
channels did not show any currents upon functional expression, confirming a pathogenic role of the mutation.
Malignant hyperthermia
may be a presentation of
KCNA1
mutations, which has significant implications for the clinical care of these patients and illustrates the phenotypic heterogeneity of
KCNA1
mutations.
...
PMID:A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia. 2727 39
