PedAM

Pediatric Disease Annotations & Medicines


	temporal lobe epilepsy

Disease ID	657
Disease	temporal lobe epilepsy
Definition	A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)
Synonym	convulsion psychomotor convulsion, psychomotor disorder temporal lobe epilepsy epilepsies, temporal lobe epilepsy lobe temporal epilepsy temporal lobe epilepsy, temporal lobe epilepsy, temporal lobe [disease/finding] lobe seizures temporal lobe temporal seizure psychomotor equivalent psychomotor seizure psychomotor seizures seizures temporal lobe seizures, temporal lobe temporal lobe epilepsies temporal lobe epilepsy (disorder) temporal lobe epilepsy (disorder) [ambiguous] temporal lobe seizure tle tle - temporal lobe epilepsy
DOID	DOID:3328
UMLS	C0014556
MeSH	D004833
SNOMED-CT	SNOMEDCT_US_2016_09_01:193000002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:40) C0033975 \| psychosis \| 12 C0011570 \| depression \| 11 C0014544 \| epilepsy \| 9 C0038220 \| status epilepticus \| 5 C0039614 \| tetanus \| 3 C0003467 \| anxiety \| 3 C0270853 \| juvenile myoclonic epilepsy \| 2 C0149931 \| migraine \| 2 C0342418 \| hypothalamic hamartoma \| 1 C0679466 \| cognitive deficits \| 1 C0040560 \| congenital toxoplasmosis \| 1 C0015458 \| parry-romberg syndrome \| 1 C0014544 \| epileptic seizures \| 1 C0002020 \| alexithymia \| 1 C0033975 \| psychotic disorders \| 1 C0018916 \| hemangiomas \| 1 C0040558 \| toxoplasmosis \| 1 C1959589 \| cavernous angioma \| 1 C0270850 \| idiopathic generalized epilepsy \| 1 C0553662 \| juvenile ra \| 1 C0033975 \| psychotic disorder \| 1 C0014544 \| epileptic seizure \| 1 C0752120 \| spinocerebellar ataxia type 1 \| 1 C0014547 \| focal epilepsy \| 1 C0242350 \| erectile dysfunction \| 1 C0014544 \| epilepsies \| 1 C0041696 \| major depression \| 1 C0036341 \| schizophrenia \| 1 C0007758 \| cerebellar ataxia \| 1 C1096063 \| intractable epilepsy \| 1 C0041696 \| major depressive disorder \| 1 C0002766 \| analgesia \| 1 C0033975 \| psychoses \| 1 C0004134 \| ataxia \| 1 C0010678 \| cysticercosis \| 1 C0013421 \| dystonia \| 1 C0040188 \| tic disorders \| 1 C0085113 \| neurofibromatosis \| 1 C0009241 \| cognitive disorders \| 1 C0038436 \| post-traumatic stress disorder \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:22) CNR1 \| 1268 \| CTD_human NPY2R \| 4887 \| CTD_human GRM1 \| 2911 \| CTD_human KDR \| 3791 \| CTD_human NPY \| 4852 \| CTD_human VEGFA \| 7422 \| CTD_human GRM5 \| 2915 \| CTD_human TEK \| 7010 \| CTD_human BDKRB1 \| 623 \| CTD_human TRPV1 \| 7442 \| CTD_human SLC12A2 \| 6558 \| CTD_human GRM2 \| 2912 \| CTD_human GRM3 \| 2913 \| CTD_human SLC1A1 \| 6505 \| CTD_human VDR \| 7421 \| CTD_human BDKRB2 \| 624 \| CTD_human P2RX7 \| 5027 \| CTD_human P2RX4 \| 5025 \| CTD_human GRM4 \| 2914 \| CTD_human SLC12A5 \| 57468 \| CTD_human SLIT2 \| 9353 \| CTD_human KCNC4 \| 3749 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 5243 \| ABCB1 \| infer 5244 \| ABCB4 \| infer 348 \| APOE \| infer 627 \| BDNF \| infer 2550 \| GABBR1 \| infer 2560 \| GABRB1 \| infer 3350 \| HTR1A \| infer 3351 \| HTR1B \| infer 3358 \| HTR2C \| infer 3553 \| IL1B \| infer 4128 \| MAOA \| infer 5173 \| PDYN \| infer 5621 \| PRNP \| infer 6532 \| SLC6A4 \| infer 361 \| AQP4 \| infer 3766 \| KCNJ10 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:435) 100302690 \| DLG2-AS1 \| DISEASES 4257 \| MGST1 \| DISEASES 2554 \| GABRA1 \| DISEASES 84245 \| MRI1 \| DISEASES 65078 \| RTN4R \| DISEASES 3631 \| INPP4A \| DISEASES 53615 \| MBD3 \| DISEASES 4804 \| NGFR \| DISEASES 9741 \| LAPTM4A \| DISEASES 7205 \| TRIP6 \| DISEASES 4185 \| ADAM11 \| DISEASES 5816 \| PVALB \| DISEASES 5173 \| PDYN \| DISEASES 140679 \| SLC32A1 \| DISEASES 2742 \| GLRA2 \| DISEASES 57030 \| SLC17A7 \| DISEASES 166 \| AES \| DISEASES 64816 \| CYP3A43 \| DISEASES 5118 \| PCOLCE \| DISEASES 26157 \| GIMAP2 \| DISEASES 1949 \| EFNB3 \| DISEASES 2597 \| GAPDH \| DISEASES 2026 \| ENO2 \| DISEASES 1432 \| MAPK14 \| DISEASES 8724 \| SNX3 \| DISEASES 55770 \| EXOC2 \| DISEASES 51185 \| CRBN \| DISEASES 3280 \| HES1 \| DISEASES 7781 \| SLC30A3 \| DISEASES 5967 \| REG1A \| DISEASES 3769 \| KCNJ13 \| DISEASES 1185 \| CLCN6 \| DISEASES 5997 \| RGS2 \| DISEASES 9429 \| ABCG2 \| DISEASES 10983 \| CCNI \| DISEASES 3641 \| INSL4 \| DISEASES 4852 \| NPY \| DISEASES 1959 \| EGR2 \| DISEASES 3991 \| LIPE \| DISEASES 29993 \| PACSIN1 \| DISEASES 51299 \| NRN1 \| DISEASES 2354 \| FOSB \| DISEASES 821 \| CANX \| DISEASES 7277 \| TUBA4A \| DISEASES 3315 \| HSPB1 \| DISEASES 57622 \| LRFN1 \| DISEASES 29767 \| TMOD2 \| DISEASES 6351 \| CCL4 \| DISEASES 599 \| BCL2L2 \| DISEASES 7283 \| TUBG1 \| DISEASES 348 \| APOE \| DISEASES 1463 \| NCAN \| DISEASES 23229 \| ARHGEF9 \| DISEASES 2670 \| GFAP \| DISEASES 1327 \| COX4I1 \| DISEASES 8500 \| PPFIA1 \| DISEASES 6538 \| SLC6A11 \| DISEASES 6616 \| SNAP25 \| DISEASES 4678 \| NASP \| DISEASES 6860 \| SYT4 \| DISEASES 56923 \| NMUR2 \| DISEASES 759 \| CA1 \| DISEASES 10752 \| CHL1 \| DISEASES 2016 \| EMX1 \| DISEASES 27345 \| KCNMB4 \| DISEASES 5279 \| PIGC \| DISEASES 80326 \| WNT10A \| DISEASES 1593 \| CYP27A1 \| DISEASES 3569 \| IL6 \| DISEASES 2572 \| GAD2 \| DISEASES 9568 \| GABBR2 \| DISEASES 347733 \| TUBB2B \| DISEASES 6496 \| SIX3 \| DISEASES 29081 \| METTL5 \| DISEASES 9194 \| SLC16A7 \| DISEASES 6857 \| SYT1 \| DISEASES 5629 \| PROX1 \| DISEASES 6532 \| SLC6A4 \| DISEASES 23316 \| CUX2 \| DISEASES 6505 \| SLC1A1 \| DISEASES 6558 \| SLC12A2 \| DISEASES 5976 \| UPF1 \| DISEASES 3783 \| KCNN4 \| DISEASES 2901 \| GRIK5 \| DISEASES 1109 \| AKR1C4 \| DISEASES 57084 \| SLC17A6 \| DISEASES 6855 \| SYP \| DISEASES 2033 \| EP300 \| DISEASES 3553 \| IL1B \| DISEASES 8775 \| NAPA \| DISEASES 9424 \| KCNK6 \| DISEASES 51430 \| SUCO \| DISEASES 25885 \| POLR1A \| DISEASES 2888 \| GRB14 \| DISEASES 2557 \| GABRA4 \| DISEASES 1421 \| CRYGD \| DISEASES 8745 \| ADAM23 \| DISEASES 8452 \| CUL3 \| DISEASES 2891 \| GRIA2 \| DISEASES 2247 \| FGF2 \| DISEASES 84961 \| FBXL20 \| DISEASES 83891 \| SNX25 \| DISEASES 8626 \| TP63 \| DISEASES 4171 \| MCM2 \| DISEASES 6507 \| SLC1A3 \| DISEASES 793 \| CALB1 \| DISEASES 9379 \| NRXN2 \| DISEASES 1181 \| CLCN2 \| DISEASES 51083 \| GAL \| DISEASES 5243 \| ABCB1 \| DISEASES 53616 \| ADAM22 \| DISEASES 10863 \| ADAM28 \| DISEASES 6595 \| SMARCA2 \| DISEASES 9044 \| BTAF1 \| DISEASES 6751 \| SSTR1 \| DISEASES 3067 \| HDC \| DISEASES 3613 \| IMPA2 \| DISEASES 207 \| AKT1 \| DISEASES 805 \| CALM2 \| DISEASES 165257 \| C1QL2 \| DISEASES 58478 \| ENOPH1 \| DISEASES 8001 \| GLRA3 \| DISEASES 2559 \| GABRA6 \| DISEASES 2561 \| GABRB2 \| DISEASES 3358 \| HTR2C \| DISEASES 6570 \| SLC18A1 \| DISEASES 9046 \| DOK2 \| DISEASES 1392 \| CRH \| DISEASES 4915 \| NTRK2 \| DISEASES 23082 \| PPRC1 \| DISEASES 51144 \| HSD17B12 \| DISEASES 6506 \| SLC1A2 \| DISEASES 9219 \| MTA2 \| DISEASES 2904 \| GRIN2B \| DISEASES 22948 \| CCT5 \| DISEASES 2043 \| EPHA4 \| DISEASES 10056 \| FARSB \| DISEASES 2697 \| GJA1 \| DISEASES 2911 \| GRM1 \| DISEASES 6326 \| SCN2A \| DISEASES 7342 \| UBP1 \| DISEASES 22934 \| RPIA \| DISEASES 3773 \| KCNJ16 \| DISEASES 4900 \| NRGN \| DISEASES 57630 \| SH3RF1 \| DISEASES 2890 \| GRIA1 \| DISEASES 132 \| ADK \| DISEASES 6750 \| SST \| DISEASES 9372 \| ZFYVE9 \| DISEASES 6529 \| SLC6A1 \| DISEASES 114793 \| FMNL2 \| DISEASES 6296 \| ACSM3 \| DISEASES 57369 \| GJD2 \| DISEASES 808 \| CALM3 \| DISEASES 10841 \| FTCD \| DISEASES 6285 \| S100B \| DISEASES 10898 \| CPSF4 \| DISEASES 5701 \| PSMC2 \| DISEASES 1742 \| DLG4 \| DISEASES 4760 \| NEUROD1 \| DISEASES 6853 \| SYN1 \| DISEASES 57619 \| SHROOM3 \| DISEASES 63974 \| NEUROD6 \| DISEASES 107 \| ADCY1 \| DISEASES 5001 \| ORC5 \| DISEASES 57094 \| CPA6 \| DISEASES 7248 \| TSC1 \| DISEASES 389941 \| C1QL3 \| DISEASES 2562 \| GABRB3 \| DISEASES 10369 \| CACNG2 \| DISEASES 6866 \| TAC3 \| DISEASES 762 \| CA4 \| DISEASES 8772 \| FADD \| DISEASES 5724 \| PTAFR \| DISEASES 51305 \| KCNK9 \| DISEASES 203190 \| LGI3 \| DISEASES 3308 \| HSPA4 \| DISEASES 8988 \| HSPB3 \| DISEASES 7200 \| TRH \| DISEASES 83660 \| TLN2 \| DISEASES 6323 \| SCN1A \| DISEASES 6249 \| CLIP1 \| DISEASES 7857 \| SCG2 \| DISEASES 3038 \| HAS3 \| DISEASES 7064 \| THOP1 \| DISEASES 6726 \| SRP9 \| DISEASES 57555 \| NLGN2 \| DISEASES 9455 \| HOMER2 \| DISEASES 3954 \| LETM1 \| DISEASES 2915 \| GRM5 \| DISEASES 2353 \| FOS \| DISEASES 3761 \| KCNJ4 \| DISEASES 51029 \| DESI2 \| DISEASES 4761 \| NEUROD2 \| DISEASES 9451 \| EIF2AK3 \| DISEASES 4176 \| MCM7 \| DISEASES 1241 \| LTB4R \| DISEASES 794 \| CALB2 \| DISEASES 6137 \| RPL13 \| DISEASES 2752 \| GLUL \| DISEASES 2820 \| GPD2 \| DISEASES 1808 \| DPYSL2 \| DISEASES 54207 \| KCNK10 \| DISEASES 2286 \| FKBP2 \| DISEASES 836 \| CASP3 \| DISEASES 266743 \| NPAS4 \| DISEASES 5978 \| REST \| DISEASES 163175 \| LGI4 \| DISEASES 2771 \| GNAI2 \| DISEASES 10102 \| TSFM \| DISEASES 151188 \| ARL6IP6 \| DISEASES 3350 \| HTR1A \| DISEASES 246213 \| SLC17A8 \| DISEASES 9478 \| CABP1 \| DISEASES 1960 \| EGR3 \| DISEASES 4684 \| NCAM1 \| DISEASES 27319 \| BHLHE22 \| DISEASES 55084 \| SOBP \| DISEASES 377677 \| CA13 \| DISEASES 6863 \| TAC1 \| DISEASES 1400 \| CRMP1 \| DISEASES 7284 \| TUFM \| DISEASES 5179 \| PENK \| DISEASES 23191 \| CYFIP1 \| DISEASES 3735 \| KARS \| DISEASES 64332 \| NFKBIZ \| DISEASES 3590 \| IL11RA \| DISEASES 7433 \| VIPR1 \| DISEASES 3768 \| KCNJ12 \| DISEASES 3739 \| KCNA4 \| DISEASES 706 \| TSPO \| DISEASES 5121 \| PCP4 \| DISEASES 255022 \| CALHM1 \| DISEASES 10215 \| OLIG2 \| DISEASES 2049 \| EPHB3 \| DISEASES 2903 \| GRIN2A \| DISEASES 90249 \| UNC5A \| DISEASES 9899 \| SV2B \| DISEASES 3751 \| KCND2 \| DISEASES 8912 \| CACNA1H \| DISEASES 9456 \| HOMER1 \| DISEASES 54997 \| TESC \| DISEASES 2558 \| GABRA5 \| DISEASES 8541 \| PPFIA3 \| DISEASES 885 \| CCK \| DISEASES 92335 \| STRADA \| DISEASES 1641 \| DCX \| DISEASES 57142 \| RTN4 \| DISEASES 3363 \| HTR7 \| DISEASES 23369 \| PUM2 \| DISEASES 9369 \| NRXN3 \| DISEASES 23583 \| SMUG1 \| DISEASES 55704 \| CCDC88A \| DISEASES 6540 \| SLC6A13 \| DISEASES 222236 \| NAPEPLD \| DISEASES 22837 \| COBLL1 \| DISEASES 3770 \| KCNJ14 \| DISEASES 8445 \| DYRK2 \| DISEASES 3146 \| HMGB1 \| DISEASES 124454 \| EARS2 \| DISEASES 20 \| ABCA2 \| DISEASES 2918 \| GRM8 \| DISEASES 6176 \| RPLP1 \| DISEASES 6890 \| TAP1 \| DISEASES 6334 \| SCN8A \| DISEASES 26289 \| AK5 \| DISEASES 204 \| AK2 \| DISEASES 7453 \| WARS \| DISEASES 10656 \| KHDRBS3 \| DISEASES 801 \| CALM1 \| DISEASES 27198 \| HCAR1 \| DISEASES 9961 \| MVP \| DISEASES 2917 \| GRM7 \| DISEASES 6597 \| SMARCA4 \| DISEASES 2571 \| GAD1 \| DISEASES 404552 \| SCGB1D4 \| DISEASES 64780 \| MICAL1 \| DISEASES 56916 \| SMARCAD1 \| DISEASES 8913 \| CACNA1G \| DISEASES 3785 \| KCNQ2 \| DISEASES 10814 \| CPLX2 \| DISEASES 9179 \| AP4M1 \| DISEASES 9908 \| G3BP2 \| DISEASES 10447 \| FAM3C \| DISEASES 51150 \| SDF4 \| DISEASES 23230 \| VPS13A \| DISEASES 4133 \| MAP2 \| DISEASES 4916 \| NTRK3 \| DISEASES 5646 \| PRSS3 \| DISEASES 22871 \| NLGN1 \| DISEASES 2475 \| MTOR \| DISEASES 4886 \| NPY1R \| DISEASES 26047 \| CNTNAP2 \| DISEASES 1756 \| DMD \| DISEASES 4514 \| MT-CO3 \| DISEASES 4536 \| MT-ND2 \| DISEASES 56259 \| CTNNBL1 \| DISEASES 2913 \| GRM3 \| DISEASES 9804 \| TOMM20 \| DISEASES 3775 \| KCNK1 \| DISEASES 5743 \| PTGS2 \| DISEASES 10767 \| HBS1L \| DISEASES 6675 \| UAP1 \| DISEASES 3765 \| KCNJ9 \| DISEASES 3766 \| KCNJ10 \| DISEASES 10763 \| NES \| DISEASES 1944 \| EFNA3 \| DISEASES 57459 \| GATAD2B \| DISEASES 10500 \| SEMA6C \| DISEASES 23632 \| CA14 \| DISEASES 9900 \| SV2A \| DISEASES 1268 \| CNR1 \| DISEASES 4803 \| NGF \| DISEASES 6566 \| SLC16A1 \| DISEASES 9446 \| GSTO1 \| DISEASES 3749 \| KCNC4 \| DISEASES 2556 \| GABRA3 \| DISEASES 63910 \| SLC17A9 \| DISEASES 1244 \| ABCC2 \| DISEASES 114327 \| EFHC1 \| DISEASES 9211 \| LGI1 \| DISEASES 6512 \| SLC1A7 \| DISEASES 2902 \| GRIN1 \| DISEASES 57582 \| KCNT1 \| DISEASES 186 \| AGTR2 \| DISEASES 7417 \| VDAC2 \| DISEASES 1759 \| DNM1 \| DISEASES 4520 \| MTF1 \| DISEASES 284656 \| EPHA10 \| DISEASES 2899 \| GRIK3 \| DISEASES 89822 \| KCNK17 \| DISEASES 2170 \| FABP3 \| DISEASES 22943 \| DKK1 \| DISEASES 7099 \| TLR4 \| DISEASES 6572 \| SLC18A3 \| DISEASES 2914 \| GRM4 \| DISEASES 3399 \| ID3 \| DISEASES 6891 \| TAP2 \| DISEASES 54455 \| FBXO42 \| DISEASES 199 \| AIF1 \| DISEASES 23590 \| PDSS1 \| DISEASES 9630 \| GNA14 \| DISEASES 6096 \| RORB \| DISEASES 2550 \| GABBR1 \| DISEASES 51629 \| SLC25A39 \| DISEASES 54206 \| ERRFI1 \| DISEASES 4129 \| MAOB \| DISEASES 8514 \| KCNAB2 \| DISEASES 388585 \| HES5 \| DISEASES 2563 \| GABRD \| DISEASES 1114 \| CHGB \| DISEASES 5251 \| PHEX \| DISEASES 5621 \| PRNP \| DISEASES 4810 \| NHS \| DISEASES 7280 \| TUBB2A \| DISEASES 6462 \| SHBG \| DISEASES 9681 \| DEPDC5 \| DISEASES 55203 \| LGI2 \| DISEASES 55504 \| TNFRSF19 \| DISEASES 3736 \| KCNA1 \| DISEASES 361 \| AQP4 \| DISEASES 3786 \| KCNQ3 \| DISEASES 2617 \| GARS \| DISEASES 10716 \| TBR1 \| DISEASES 84628 \| NTNG2 \| DISEASES 5803 \| PTPRZ1 \| DISEASES 10840 \| ALDH1L1 \| DISEASES 2596 \| GAP43 \| DISEASES 11346 \| SYNPO \| DISEASES 2912 \| GRM2 \| DISEASES 56666 \| PANX2 \| DISEASES 594857 \| NPS \| DISEASES 4905 \| NSF \| DISEASES 815 \| CAMK2A \| DISEASES 7442 \| TRPV1 \| DISEASES 2897 \| GRIK1 \| DISEASES 1826 \| DSCAM \| DISEASES 8911 \| CACNA1I \| DISEASES 1135 \| CHRNA2 \| DISEASES 3778 \| KCNMA1 \| DISEASES 10636 \| RGS14 \| DISEASES 6332 \| SCN7A \| DISEASES 57468 \| SLC12A5 \| DISEASES 1385 \| CREB1 \| DISEASES 837 \| CASP4 \| DISEASES 11171 \| STRAP \| DISEASES 5649 \| RELN \| DISEASES 146713 \| RBFOX3 \| DISEASES 197 \| AHSG \| DISEASES 4988 \| OPRM1 \| DISEASES 30820 \| KCNIP1 \| DISEASES 6324 \| SCN1B \| DISEASES 22809 \| ATF5 \| DISEASES 2898 \| GRIK2 \| DISEASES 4908 \| NTF3 \| DISEASES 3702 \| ITK \| DISEASES 387 \| RHOA \| DISEASES 6158 \| RPL28 \| DISEASES 2900 \| GRIK4 \| DISEASES 5923 \| RASGRF1 \| DISEASES 91833 \| WDR20 \| DISEASES 399697 \| CTXN2 \| DISEASES 2668 \| GDNF \| DISEASES 834 \| CASP1 \| DISEASES 2566 \| GABRG2 \| DISEASES 23658 \| LSM5 \| DISEASES 2632 \| GBE1 \| DISEASES 10900 \| RUNDC3A \| DISEASES 116 \| ADCYAP1 \| DISEASES 3586 \| IL10 \| DISEASES 51661 \| FKBP7 \| DISEASES 627 \| BDNF \| DISEASES 1945 \| EFNA4 \| DISEASES 10243 \| GPHN \| DISEASES 132204 \| SYNPR \| DISEASES 7881 \| KCNAB1 \| DISEASES 51555 \| PEX5L \| DISEASES 51227 \| PIGP \| DISEASES 30819 \| KCNIP2 \| DISEASES 22987 \| SV2C \| DISEASES 346007 \| EYS \| DISEASES 22999 \| RIMS1 \| DISEASES 10687 \| PNMA2 \| DISEASES 3066 \| HDAC2 \| DISEASES 3748 \| KCNC3 \| DISEASES 55862 \| ECHDC1 \| DISEASES 143686 \| SESN3 \| DISEASES 5027 \| P2RX7 \| DISEASES 8972 \| MGAM \| DISEASES 10381 \| TUBB3 \| DISEASES 56963 \| RGMA \| DISEASES 3316 \| HSPB2 \| DISEASES 378938 \| MALAT1 \| DISEASES 7955 \| RNF217-AS1 \| DISEASES 692225 \| SNORD94 \| DISEASES
Locus	(Waiting for update.)

Disease ID	657
Disease	temporal lobe epilepsy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:46) HP:0001250 \| Seizures \| 70 HP:0000709 \| Psychosis \| 12 HP:0000716 \| Depression \| 11 HP:0007359 \| Partial seizures \| 6 HP:0100543 \| Cognitive deficits \| 6 HP:0002133 \| Status epilepticus \| 5 HP:0002500 \| Leukoaraiosis \| 5 HP:0011157 \| Auras \| 4 HP:0002373 \| Febrile convulsions \| 4 HP:0002384 \| Dyscognitive seizures \| 3 HP:0001279 \| Syncope \| 3 HP:0002354 \| Memory loss \| 3 HP:0000739 \| Anxiety \| 3 HP:0000708 \| Behavioral problems \| 3 HP:0002197 \| Generalized seizures \| 2 HP:0002315 \| Headaches \| 2 HP:0002076 \| Migraine headaches \| 2 HP:0002539 \| Cortical dysplasia \| 2 HP:0000718 \| Aggressive behaviour \| 2 HP:0002271 \| Autonomic dysregulation \| 1 HP:0011162 \| Psychic auras \| 1 HP:0002084 \| Bifid skull \| 1 HP:0001251 \| Ataxia \| 1 HP:0002072 \| Chorea \| 1 HP:0100710 \| Impulsivity \| 1 HP:0000802 \| Erectile dysfunction \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0002069 \| Generalized tonic clonic seizures \| 1 HP:0011161 \| Olfactory auras \| 1 HP:0001332 \| Dystonia \| 1 HP:0011174 \| Hyperkinetic seizures \| 1 HP:0002529 \| Neuronal loss in central nervous system \| 1 HP:0000738 \| Sensory hallucination \| 1 HP:0001048 \| Cavernous angioma \| 1 HP:0012444 \| Brain wasting \| 1 HP:0012005 \| Deja vu \| 1 HP:0007366 \| Brainstem atrophy \| 1 HP:0008765 \| Auditory hallucinations \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0001268 \| Mental deterioration \| 1 HP:0001662 \| Bradycardia \| 1 HP:0000725 \| Psychotic episodes \| 1 HP:0001344 \| Absent speech development \| 1 HP:0002444 \| Hypothalamic hamartoma \| 1

Disease ID	657
Disease	temporal lobe epilepsy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:25) C1504404 \| hippocampal sclerosis \| 142 C0036572 \| seizures \| 41 C0036572 \| seizure \| 29 C2062593 \| mesial temporal sclerosis \| 21 C0033975 \| psychosis \| 12 C0011570 \| depression \| 11 C0751495 \| partial seizures \| 4 C0009952 \| febrile seizures \| 4 C0086132 \| depressive symptoms \| 3 C0149958 \| complex partial seizures \| 3 C0003467 \| anxiety \| 3 C0871381 \| social cognition \| 2 C0234533 \| generalized seizures \| 2 C0235169 \| excitability \| 2 C0431380 \| cortical dysplasia \| 2 C0033975 \| psychoses \| 1 C0029166 \| oral manifestations \| 1 C0679466 \| cognitive deficits \| 1 C0013421 \| dystonia \| 1 C0494475 \| generalized tonic-clonic seizures \| 1 C0001726 \| affective symptoms \| 1 C0234213 \| deafferentation \| 1 C0872410 \| posturing \| 1 C0311335 \| convulsive status epilepticus \| 1 C0041696 \| major depression \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1045642	25458099	5243	ABCB1	umls:C0014556	BeFree	Polymorphism of the multidrug resistance 1 gene MDR1/ABCB1 C3435T and response to antiepileptic drug treatment in temporal lobe epilepsy.	0.088815624	2014	ABCB1	7	87509329	A	T,G
rs11191692	21439911	348	APOE	umls:C0014556	BeFree	Furthermore, the positive association between rs11191692 and TLE independent of apolipoprotein E ε4 was supported by five SNPs haplotype analysis.	0.024103583	2011	CALHM2;CALHM1	10	103454008	G	A
rs118192250	19453707	3786	KCNQ3	umls:C0014556	BeFree	The effects of the Kcnq2 gene A306T mutation and the Kcnq3 gene G311V mutation were determined for minimal clonic, minimal tonic hindlimb extension, and partial psychomotor seizures.	0.000271442	2009	KCNQ3	8	132175457	C	A
rs1799990	17092648	5621	PRNP	umls:C0014556	BeFree	Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women.	0.010725648	2007	PRNP	20	4699605	A	G
rs1801278	25458098	3643	INSR	umls:C0014556	BeFree	Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.	0.000271442	2014	IRS1	2	226795828	C	T,G,A
rs1801278	25458098	8660	IRS2	umls:C0014556	BeFree	Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.	0.000271442	2014	IRS1	2	226795828	C	T,G,A
rs1801278	25458098	3667	IRS1	umls:C0014556	BeFree	Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.	0.000271442	2014	IRS1	2	226795828	C	T,G,A
rs1805057	12601092	2550	GABBR1	umls:C0014556	BeFree	GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.	0.023079948	2003	GABBR1	6	29613344	C	T
rs1805057	16278087	2550	GABBR1	umls:C0014556	BeFree	Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy.	0.023079948	2005	GABBR1	6	29613344	C	T
rs1805057	16499773	2550	GABBR1	umls:C0014556	BeFree	Recently a coding nonsynonymous single-nucleotide polymorphism (SNP; G1465A) in the GABBR1 gene was reported to be associated with the incidence and severity of temporal lobe epilepsy (TLE).	0.023079948	2006	GABBR1	6	29613344	C	T
rs1805057	18255321	2550	GABBR1	umls:C0014556	BeFree	GABABR1 (G1465A) gene variation and temporal lobe epilepsy controversy: new evidence.	0.023079948	2008	GABBR1	6	29613344	C	T
rs1805057	21621395	2550	GABBR1	umls:C0014556	BeFree	GABBR1 gene polymorphism(G1465A)isassociated with temporal lobe epilepsy.	0.023079948	2011	GABBR1	6	29613344	C	T
rs1805097	25458098	3643	INSR	umls:C0014556	BeFree	Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.	0.000271442	2014	IRS2	13	109782884	C	T
rs1805097	25458098	3667	IRS1	umls:C0014556	BeFree	Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.	0.000271442	2014	IRS2	13	109782884	C	T
rs1805097	25458098	8660	IRS2	umls:C0014556	BeFree	Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.	0.000271442	2014	IRS2	13	109782884	C	T
rs3812718	22578703	6323	SCN1A	umls:C0014556	BeFree	Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis.	0.003267234	2012	SCN1A	2	166053034	C	T
rs4906902	22082659	2562	GABRB3	umls:C0014556	BeFree	The rs4906902 G allele of the GABRB3 gene was overrepresented in mTLE patients with depression; individuals homozygous for the G allele showed reduced GABRB3 mRNA expression.	0.002995792	2011	GABRB3	15	26774621	A	G
rs6295	22222329	3350	HTR1A	umls:C0014556	BeFree	C allele of 5-HT1A C-1019G polymorphism might be an independent risk factor for anxiety disorders in temporal lobe epilepsy.	0.005905708	2012	HTR1A	5	63962738	C	G
rs6295	22222329	6532	SLC6A4	umls:C0014556	BeFree	We evaluate the influence of 5-HTTLPR and 5-HTTVNTR polymorphisms in the 5-HTT gene and the C-1019G polymorphism in the 5-HT1A gene in psychiatric comorbidities of TLE.	0.014364013	2012	HTR1A	5	63962738	C	G
rs6295	23333373	3350	HTR1A	umls:C0014556	BeFree	The mRNA expression of HTR1a was significantly more abundant in hippocampal mRNA of TLE patients homozygous for the rs6295 C-allele as compared to those with the GG-genotype.	0.005905708	2013	HTR1A	5	63962738	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:4)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
2	166926428	rs11692675	T	C	rs11692675	24014518	4.78E-06	MTLEHS+FS versus controls	1.3	[1.16-1.46]	up to 1,018 European ancestry cases; 7,552 European ancestry controls	European(8570)	ALL(8570)	EUR(8570)	ALL(8570)	Mesial temporal lobe epilepsy with hippocampal sclerosis	HPOID:0001250	Seizures	DOID:3328	temporal lobe epilepsy	NA	NA	NA	NA	Epilepsy	rs11692675-G	Research Support, N.I.H., Extramural	Meta-Analysis	Research Support, Non-U.S. Gov't
2	166926428	rs11692675	T	C	rs11692675	24014518	4.87E-07	MTLEHS versus controls	1.21	[1.12-1.30]	up to 1,018 European ancestry cases; 7,552 European ancestry controls	European(8570)	ALL(8570)	EUR(8570)	ALL(8570)	Mesial temporal lobe epilepsy with hippocampal sclerosis	HPOID:0001250	Seizures	DOID:3328	temporal lobe epilepsy	NA	NA	NA	NA	Epilepsy	rs11692675-G	Research Support, N.I.H., Extramural	Meta-Analysis	Research Support, Non-U.S. Gov't
2	166978750	rs7587026	C	A	rs7587026	24014518	3.00E-09	MTLEHS+FS vs. Controls	1.42	[1.26-1.59]	up to 1,018 European ancestry cases; 7,552 European ancestry controls	European(8570)	ALL(8570)	EUR(8570)	ALL(8570)	Mesial temporal lobe epilepsy with hippocampal sclerosis	HPOID:0001250	Seizures	DOID:3328	temporal lobe epilepsy	NA	NA	NA	NA	Epilepsy	rs7587026-A	Research Support, N.I.H., Extramural	Meta-Analysis	Research Support, Non-U.S. Gov't
2	166978750	rs7587026	C	A	rs7587026	24014518	4.00E-08	MTLEHS vs. Controls	1.24	[1.15-1.34]	up to 1,018 European ancestry cases; 7,552 European ancestry controls	European(8570)	ALL(8570)	EUR(8570)	ALL(8570)	Mesial temporal lobe epilepsy with hippocampal sclerosis	HPOID:0001250	Seizures	DOID:3328	temporal lobe epilepsy	NA	NA	NA	NA	Epilepsy	rs7587026-A	Research Support, N.I.H., Extramural	Meta-Analysis	Research Support, Non-U.S. Gov't

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:11)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0014556	capsaicin	D002211	404-86-4	epilepsy, temporal lobe	MESH:D004833	marker/mechanism	20144892
C0014556	carbamazepine	D002220	298-46-4	epilepsy, temporal lobe	MESH:D004833	therapeutic	15514420
C0014556	lamotrigine	C047781	84057-84-1	epilepsy, temporal lobe	MESH:D004833	therapeutic	16499746
C0014556	medroxyprogesterone acetate	D017258	71-58-9	epilepsy, temporal lobe	MESH:D004833	therapeutic	123269
C0014556	methotrexate	D008727	1959/5/2	epilepsy, temporal lobe	MESH:D004833	marker/mechanism	20470218
C0014556	phenytoin	D010672	57-41-0	epilepsy, temporal lobe	MESH:D004833	therapeutic	4032590
C0014556	pilocarpine	D010862	92-13-7	epilepsy, temporal lobe	MESH:D004833	marker/mechanism	10999513
C0014556	tacrolimus	D016559	109581-93-3	epilepsy, temporal lobe	MESH:D004833	marker/mechanism	16573841
C0014556	topiramate	C052342	97240-79-4	epilepsy, temporal lobe	MESH:D004833	therapeutic	12859294
C0014556	valproic acid	D014635	99-66-1	epilepsy, temporal lobe	MESH:D004833	therapeutic	12859294
C0014556	vigabatrin	D020888	60643-86-9	epilepsy, temporal lobe	MESH:D004833	therapeutic	10802764

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)