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:C0014547 (
focal epilepsy
)
1,627
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudden cardiac death. We describe a Norwegian family with mutations within the
KCNQ1
gene causing cLQTS type 1 (
LQT1
) and epilepsy. The index patient had Jervell and Lange-Nielsen-syndrome (JLNS) with deafness and recurrent episodes of cardiac arrhythmia. The mother and the brother have
Romano-Ward syndrome
(
RWS
) with recurrent arrhythmias. Whereas the father has
focal epilepsy
and genetically verified
LQT1
, the sister has both
focal epilepsy
and
RWS
. Our findings are consistent with the notion that mutations in the
KCNQ1
gene can cause epilepsy.
...
PMID:Epilepsy in patients with long QT syndrome type 1: A Norwegian family. 3040 14
