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
