| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-107 |
Sentence |
denotes |
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. |
| T2 |
108-302 |
Sentence |
denotes |
Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. |
| T3 |
303-524 |
Sentence |
denotes |
A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6). |
| T4 |
525-635 |
Sentence |
denotes |
To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment. |
| T5 |
636-746 |
Sentence |
denotes |
In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III. |
| T6 |
747-816 |
Sentence |
denotes |
We characterized a four-generation South American family with HypoPP. |
| T7 |
817-961 |
Sentence |
denotes |
Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people. |
| T8 |
962-1152 |
Sentence |
denotes |
Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death. |
| T9 |
1153-1270 |
Sentence |
denotes |
These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP. |
