Seizures
Basic details
Preferred term: Seizures
Alt. terms: Epilepsy
HPO term: Seizure
HPO code: HP:0001250
GenIA ID: 123
Last updated on: 2024-04-25 14:48:58
Cross ref. with other ontologies
NCIT: -
MESH: D012640
EFO: -
OAE: -
SNOMEDCT: -
ICD10: G40
Description
Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.
Hierarchical classification
PARENT terms
TERM
Seizures
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101040 | F | 210724![]() |
11 | Caucasian | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101093 | M | 211289 | 51 | German | Seizures | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101133 | M | 210896 | 40 | Seizures | Immunodeficiency, common variable, 13 | PMID:34975878 [Fam.F082:P082] | |
101343 | M | 210134 | 26 | Italian | Seizures | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
101395 | M | 212167 | 20 | Egyptian | Seizures | Immunodeficiency, common variable, 8 | PMID:27683652 [P1(II.1)] |
101398 | F | 212167 | 20 | Egyptian | Seizures | Immunodeficiency, common variable, 8 | PMID:27683652 [Fam.P1:II.4(P2)] |
101435 | F | 212171 | - | Lebanese | Seizures | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
101446 | M | 212176 | - | North American | Seizures | Immunodeficiency, common variable, 8 | PMID:26206937 [P9] |
101488 | M | 210401![]() |
- | German | Seizures | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101490 | M | 211009 | - | Seizures | PMID:34975878 [Fam.F164:P164] | ||
101492 | M | 210594 | 32 | German | Seizures | NFKB1 insufficiency | PMID:34975878 [Fam.F165:P165] |
101573 | F | 210707 | 3 | Seizures | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F196:P196] | |
101578 | M | 210205![]() |
12 | German | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
101768 | M | 210789 | 27 | Seizures | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
102085 | M | 214304 | 0 | Egyptian | Seizures | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES12] |
102224 | F | 214919 | - | German | Seizures | DiGeorge syndrome | PMID:35486341 [P017] |
103051 | M | 215095![]() |
0 | Finnish | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
0 | Finnish | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103062 | M | 215096![]() |
0 | Finnish | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
103067 | F | 215097![]() |
0 | Finnish | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F3:II.3(P4)] |
103072 | F | 215098![]() |
1 | Finnish | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
103076 | F | 215099![]() |
0 | Omani | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103110 | M | 215099![]() |
0 | Omani | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
103113 | M | 215100![]() |
- | Iranian | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
103116 | F | 215101![]() |
0 | Saudi | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [P1(IV.4)] |
103128 | F | 215101![]() |
0 | Saudi | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.5] |
103129 | F | 215101![]() |
0 | Saudi | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.6] |
103130 | M | 215101![]() |
0 | Saudi | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.7] |
103131 | M | 215101![]() |
0 | Saudi | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.8] |
103132 | M | 215102![]() |
0 | Emirati | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC36500:IV.6(IV.3)] |
103152 | F | 215104![]() |
0 | Omani | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC2500:IV.9(MC2501)] |
103170 | F | 215104![]() |
0 | Omani | Seizures | PMID:26463574 [Fam.MC2500:IV.10] | |
103171 | M | 215104![]() |
0 | Omani | Seizures | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC2500:IV.11] |
103732 | M | 215232![]() |
1 | Georgian Jewish | Seizures | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.A:III.4(A-III-4)] |
104354 | F | 215493 | 5 | Caucasian | Seizures | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
104580 | F | 215553![]() |
- | Turkish | Grand mal seizures | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)] |
104639 | F | 215562 | 1 | Iraqi | Seizures | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
104786 | F | 215573![]() |
9 | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | |
104797 | M | 215577![]() |
9 | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
105135 | F | 215649![]() |
0 | Moroccan | Grand mal seizures | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:38914362 [Fam.M:II.1(107)] |
105549 | F | 215801 | 12 | Caucasian | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105907 | M | 215904 | - | Caucasian | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
106047 | F | 215930 | - | Caucasian | Grand mal seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106080 | F | 215936 | - | Seizures | 4q24 deletion syndrome | PMID:150198 [Fam.EJ:587]; PMID:35784294 [249234] | |
106281 | M | 215977 | - | Caucasian | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.1(UU.V.1 (121))]; PMID:29305966 [Fam.IV.2:V.3(V.3)] |
106313 | F | 215982 | 36 | Caucasian | Seizures | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106475 | M | 216028 | - | Egyptian | Seizures | Immunodeficiency, common variable, 8 | PMID:32506362 [P10] |
106476 | M | 216029 | - | Egyptian | Seizures | Immunodeficiency, common variable, 8 | PMID:32506362 [P11] |
106549 | F | 216075![]() |
- | Dutch | Seizures | PMID:26867732 [Fam.C:I.2]; PMID:25888558 [Fam.1:II.2(Mother)] | |
106555 | M | 216078![]() |
- | Caucasian | Seizures | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106577 | F | 216081![]() |
- | Caucasian | Seizures | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106842 | F | 216021![]() |
- | Seizures | PMID:150198 [Fam.FV:I.2(768)]; GRID:001217 [Fam.1:I.2(mother)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).