T1  Age 33 44   45-year old

T2  Sex 45 50   woman

T3  Biological_structure 79 98  university hospital

T4  Date 99 115 at the age of 35

E1  Date:T4 

T5  History 154 163 pregnancy

T6  History 173 192 congenital deafness

T7  History 260 268 epilepsy

T8  Clinical_event 62 71    presented

E2  Clinical_event:T8 

R1  MODIFY Arg1:T3 Arg2:E2  

T9  Sign_symptom 212 219    syncope

E3  Sign_symptom:T9 

T10 Date 227 235    age of 3

E4  Date:T10 

T11 Medication 291 316  anti-epilepsy medications

E5  Medication:T11 

T12 Sign_symptom 377 384    syncope

E6  Sign_symptom:T12 

T13 Detailed_description 356 373    several instances

R2  MODIFY Arg1:T13 Arg2:E6 

T14 Date 393 402    age of 13

E7  Date:T14 

T15 Sign_symptom 414 421    syncope

E8  Sign_symptom:T15 

T16 Disease_disorder 457 461    JLNS

E9  Disease_disorder:T16 

#1  AnnotatorNotes E9   Jervell and Lange-Nielsen syndrome

T17 Sign_symptom 501 522    prolonged QT interval

E10 Sign_symptom:T17 

T18 Sign_symptom 528 535    syncope

E11 Sign_symptom:T18 

T19 Date 689 698    age of 29

E12 Date:T19 

T20 Sign_symptom 658 681    subarachnoid hemorrhage

E13 Sign_symptom:T20 

T21 Clinical_event 715 724  presented

E14 Clinical_event:T21 

T22 Nonbiological_location 732 740  hospital

R3  MODIFY Arg1:T22 Arg2:E14    

T23 Medication 761 774  beta-blockers

E15 Medication:T23 

A1  POLARITY E15 NEG

T24 History 800 806 asthma

T25 Medication 823 833  mexiletine

E16 Medication:T25 

T26 Medication 849 858  phenytoin

E17 Medication:T26 

T27 Sign_symptom 556 574    arrhythmic episode

E18 Sign_symptom:T27 

A2  POLARITY E18 UNCERTAIN

T28 Disease_disorder 616 624    epilepsy

E19 Disease_disorder:T28 

A3  POLARITY E19 UNCERTAIN

T29 Sign_symptom 597 608    tachycardia

E20 Sign_symptom:T29 

T30 Diagnostic_procedure 864 867    QTc

E21 Diagnostic_procedure:T30 

T31 Lab_value 884 893   prolonged

T32 Lab_value 895 901   584 ms

R4  MODIFY Arg1:T31 Arg2:E21    

R5  MODIFY Arg1:T32 Arg2:E21    

T33 Clinical_event 906 918  presentation

E22 Clinical_event:T33 

T34 Medication 941 949  atenolol

E23 Medication:T34 

T35 Clinical_event 969 978  delivered

E24 Clinical_event:T35 

T36 Therapeutic_procedure 1013 1032 Caesarean operation

E25 Therapeutic_procedure:T36 

T37 Nonbiological_location 1040 1048    hospital

R6  MODIFY Arg1:E25 Arg2:E24    

R7  MODIFY Arg1:T37 Arg2:E24    

T38 Date 1056 1065  age of 35

E26 Date:T38 

R8  MODIFY Arg1:E26 Arg2:E24    

T39 Date 1067 1072  At 37

E27 Date:T39 

T40 Subject 983 987 baby

R9  MODIFY Arg1:T40 Arg2:E24    

T41 Clinical_event 1078 1087    delivered

E28 Clinical_event:T41 

T42 Subject 1092 1103   second baby

R10 MODIFY Arg1:T42 Arg2:E28    

T43 Therapeutic_procedure 1129 1148 Caesarean operation

E29 Therapeutic_procedure:T43 

T44 Nonbiological_location 1156 1164    hospital

R11 MODIFY Arg1:T44 Arg2:E28    

R12 MODIFY Arg1:E27 Arg2:E28    

R13 MODIFY Arg1:E29 Arg2:E28    

T45 Medication 1192 1205    beta-blockers

E30 Medication:T45 

T46 Diagnostic_procedure 1211 1214  QTc

E31 Diagnostic_procedure:T46 

T47 Lab_value 1224 1233 prolonged

T48 Lab_value 1235 1243 600 msec

R14 MODIFY Arg1:T47 Arg2:E31    

R15 MODIFY Arg1:T48 Arg2:E31    

T49 Lab_value 1262 1270 780 msec

R16 MODIFY Arg1:T49 Arg2:E31    

T50 Date 1251 1260  age of 37

E32 Date:T50 

T51 Date 1251 1257;1274 1276    age of 44

E33 Date:T51 

R17 MODIFY Arg1:E32 Arg2:T48    

R18 MODIFY Arg1:E33 Arg2:T49    

T52 Sign_symptom 1458 1465  syncope

E34 Sign_symptom:T52 

T53 Detailed_description 1447 1457  occasional

R19 MODIFY Arg1:T53 Arg2:E34    

T54 Therapeutic_procedure 1491 1529 implantable cardioverter defibrillator

E35 Therapeutic_procedure:T54 

T55 Therapeutic_procedure 1531 1534 ICD

E36 Therapeutic_procedure:T55 

R20 IDENTICAL Arg1:E36 Arg2:E35 

T56 Date 1549 1564  38 years of age

E37 Date:T56 

T57 Sign_symptom 1592 1617  stable clinical condition

E38 Sign_symptom:T57 

T58 Disease_disorder 1656 1660  JLNS

E39 Disease_disorder:T58 

A4  POLARITY E39 UNCERTAIN

A5  POLARITY E9 UNCERTAIN

T59 Subject 1665 1677   both infants

T60 Family_history 1684 1744    measured QTc of 500 ms or greater within 1 month after birth

R21 MODIFY Arg1:T60 Arg2:T59    

T61 Family_history 1803 1836    stable condition at ages 10 and 8

R22 MODIFY Arg1:T61 Arg2:T59    

T62 Family_history 1746 1759    beta blockers

R23 MODIFY Arg1:T62 Arg2:T59    

#2  AnnotatorNotes T59  Note that most material in this sentence is about the children, not the patient

T63 Subject 1868 1871   son

T64 Family_history 1857 1860    QTc

T65 Family_history 1905 1933    500 ms one month after birth

R24 MODIFY Arg1:T65 Arg2:T64    

T66 Subject 1956 1962   sister

T67 Family_history 1945 1948    QTc

T68 Family_history 1975 1990    530 ms at birth

R25 MODIFY Arg1:T68 Arg2:T67    

T69 History 1992 2059   The father (I-1) and mother (I-2) of the proband were first cousins

#3  AnnotatorNotes T69  Medically relevant for the patient, not her parents

T70 Subject 2149 2173   immediate family members

T71 Family_history 2070 2141    no history of sudden unexplained syncope or death of children or adults

R26 MODIFY Arg1:T71 Arg2:T70    

T72 Nonbiological_location 2311 2336    Chiba University Hospital

T73 Diagnostic_procedure 2218 2237  Clinical evaluation

E40 Diagnostic_procedure:T73 

T74 Clinical_event 2242 2254    consultation

E41 Clinical_event:T74 

R27 MODIFY Arg1:T72 Arg2:E41    

R28 MODIFY Arg1:T72 Arg2:E40    

T75 Diagnostic_procedure 2425 2428  ECG

E42 Diagnostic_procedure:T75 

T76 Diagnostic_procedure 2398 2419  physical examinations

E43 Diagnostic_procedure:T76 

T77 Diagnostic_procedure 2430 2443  Blood samples

E44 Diagnostic_procedure:T77 

T78 Clinical_event 2509 2527    genetic counseling

E45 Clinical_event:T78 

T79 Diagnostic_procedure 2599 2610  Genomic DNA

E46 Diagnostic_procedure:T79 

T80 Biological_structure 2629 2657  peripheral blood lymphocytes

R29 MODIFY Arg1:T80 Arg2:E46    

T81 Diagnostic_procedure 2915 2940  polymerase chain reaction

E47 Diagnostic_procedure:T81 

T82 Diagnostic_procedure 2942 2945  PCR

E48 Diagnostic_procedure:T82 

R30 IDENTICAL Arg1:E48 Arg2:E47 

T83 Detailed_description 2789 2794  KCNQ1

R31 MODIFY Arg1:T83 Arg2:E47    

T84 Detailed_description 2827 2846  LQT causative genes

R32 MODIFY Arg1:T84 Arg2:E47    

T85 Detailed_description 2848 2895  KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, SCN4B, KCNJ5

R33 IDENTICAL Arg1:T85 Arg2:T84 

T86 Detailed_description 3011 3035  30–100 ng of genomic DNA

T87 Coreference 3053 3070   PCR amplification

E49 Coreference:T87 

R34 IDENTICAL Arg1:E49 Arg2:E47 

R35 MODIFY Arg1:T86 Arg2:E49    

T88 Detailed_description 3076 3090  DNA polymerase

T89 Detailed_description 3092 3153  PrimeSTAR GXL DNA Polymerase; Takara Bio Inc., Kusatsu, Japan

R36 MODIFY Arg1:T88 Arg2:E49    

R37 MODIFY Arg1:T89 Arg2:E49    

T90 Detailed_description 3159 3170  primer sets

R38 MODIFY Arg1:T90 Arg2:E49    

T91 Diagnostic_procedure 3217 3227  sequencing

E50 Diagnostic_procedure:T91 

T92 Detailed_description 3204 3216  conventional

T93 Detailed_description 3233 3250  Sanger sequencers

R39 MODIFY Arg1:T92 Arg2:E50    

R40 MODIFY Arg1:T93 Arg2:E50    

T94 Detailed_description 3176 3185  amplicons

R41 MODIFY Arg1:T94 Arg2:E50    

T95 Detailed_description 3252 3338  Applied Biosystems 3730/3130 DNA analyzers; Thermo Fisher Scientific, Waltham, MA, USA

R42 MODIFY Arg1:T95 Arg2:T93    

T96 Detailed_description 3364 3409  processed with Gene Codes Sequencher Software

T97 Detailed_description 3411 3426  Takara Bio Inc.

R43 MODIFY Arg1:T96 Arg2:E50    

R44 MODIFY Arg1:T97 Arg2:T96    

T98 Detailed_description 3432 3467  mapped to the human genome sequence

R45 MODIFY Arg1:T98 Arg2:E50    

T99 Detailed_description 3469 3486  build GRCh37/hg19

R46 MODIFY Arg1:T99 Arg2:T98    

T100    Diagnostic_procedure 3489 3505  Genetic analysis

E51 Diagnostic_procedure:T100 

T101    Detailed_description 3585 3595  KCNQ1 gene

T102    Detailed_description 3668 3687  LQT causative genes

R47 MODIFY Arg1:T101 Arg2:E51   

R48 MODIFY Arg1:T102 Arg2:E51   

T103    Detailed_description 3689 3736  KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, SCN4B, KCNJ5

R49 IDENTICAL Arg1:T103 Arg2:T102   

T104    Sign_symptom 3759 3786  homozygous nonsense variant

E52 Sign_symptom:T104 

T105    Sign_symptom 3882 3907  homozygous common variant

E53 Sign_symptom:T105 

T106    Detailed_description 3788 3810  NM_000218.2:c.115G > T

R50 MODIFY Arg1:T106 Arg2:E52   

T107    Detailed_description 3909 3932  NM_000218.2:c.1343C > G

R51 MODIFY Arg1:T107 Arg2:E53   

T108    Diagnostic_procedure 3978 3995  Genetic screening

E54 Diagnostic_procedure:T108 

T109    Subject 4003 4009   mother

T110    Subject 4020 4028   children

R52 MODIFY Arg1:T109 Arg2:E54   

R53 MODIFY Arg1:T110 Arg2:E54   

T111    Family_history 4071 4108    heterozygous for the nonsense variant

R54 MODIFY Arg1:T111 Arg2:T110  

R55 MODIFY Arg1:T111 Arg2:T109  

T112    Subject 4122 4129   husband

T113    Family_history 4171 4206    heterozygous for the common variant

R56 MODIFY Arg1:T113 Arg2:T112  

T114    History 4247 4298   The proband is a child from a first-cousin marriage

T115    Disease_disorder 4389 4394  JLNS1

E55 Disease_disorder:T115 

T116    Sign_symptom 4326 4353  homozygous nonsense variant

E56 Sign_symptom:T116 

R57 CAUSE Arg1:E56 Arg2:E55 

T117    Sign_symptom 4425 4473  pathogenic variants in other LQT causative genes

E57 Sign_symptom:T117 

A6  POLARITY E57 NEG

*   OVERLAP E2 E1

R58 AFTER Arg1:E1 Arg2:E3   

*   OVERLAP E3 E4 E5

R59 BEFORE Arg1:E5 Arg2:E6  

R60 BEFORE Arg1:E6 Arg2:E7  

*   OVERLAP E7 E8 E9 E10 E11 E18 E20 E19

R61 BEFORE Arg1:E19 Arg2:E13    

*   OVERLAP E13 E12

R62 BEFORE Arg1:E12 Arg2:E14    

*   OVERLAP E14 E15 E16 E17 E21 E22 E23

R63 BEFORE Arg1:E23 Arg2:E24    

*   OVERLAP E24 E26

R64 BEFORE Arg1:E26 Arg2:E27    

*   OVERLAP E27 E28

R65 BEFORE Arg1:E28 Arg2:E30    

*   OVERLAP E30 E31

R66 BEFORE Arg1:E31 Arg2:E34    

R67 BEFORE Arg1:E34 Arg2:E35    

*   OVERLAP E35 E37

R68 BEFORE Arg1:E37 Arg2:E38    

R69 BEFORE Arg1:E38 Arg2:E39    

R70 BEFORE Arg1:E39 Arg2:E40    

*   OVERLAP E40 E43 E42

R71 BEFORE Arg1:E42 Arg2:E44    

R72 AFTER Arg1:E44 Arg2:E45 

R73 BEFORE Arg1:E45 Arg2:E46    

*   OVERLAP E46 E47 E50 E51 E52 E53

R74 BEFORE Arg1:E53 Arg2:E54    

R75 BEFORE Arg1:E54 Arg2:E56    

*   OVERLAP E56 E57