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

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101040 F 210724tree icon 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 210401tree icon - 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 210205tree icon 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 215095tree icon 0 Finnish Seizures Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F1:II.7(P1)]
103061 M 215095tree icon 0 Finnish Seizures Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F1:II.9(P2)]
103062 M 215096tree icon 0 Finnish Seizures Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F2:II.2(P3)]
103067 F 215097tree icon 0 Finnish Seizures Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F3:II.3(P4)]
103072 F 215098tree icon 1 Finnish Seizures Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F4:II.1(P5)]
103076 F 215099tree icon 0 Omani Seizures Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103110 M 215099tree icon 0 Omani Seizures Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.2(P7)]
103113 M 215100tree icon - Iranian Seizures Seizures, cortical blindness, microcephaly syndrome PMID:36212620 [Patient(II.1)]
103116 F 215101tree icon 0 Saudi Seizures Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [P1(IV.4)]
103128 F 215101tree icon 0 Saudi Seizures Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.5]
103129 F 215101tree icon 0 Saudi Seizures Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.6]
103130 M 215101tree icon 0 Saudi Seizures Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.7]
103131 M 215101tree icon 0 Saudi Seizures Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.8]
103132 M 215102tree icon 0 Emirati Seizures Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC36500:IV.6(IV.3)]
103152 F 215104tree icon 0 Omani Seizures Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC2500:IV.9(MC2501)]
103170 F 215104tree icon 0 Omani Seizures PMID:26463574 [Fam.MC2500:IV.10]
103171 M 215104tree icon 0 Omani Seizures Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC2500:IV.11]
103732 M 215232tree icon 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 215553tree icon - 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 215573tree icon 9 Seizures CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)]
104797 M 215577tree icon 9 Seizures CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
105135 F 215649tree icon 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 216075tree icon - Dutch Seizures PMID:26867732 [Fam.C:I.2]; PMID:25888558 [Fam.1:II.2(Mother)]
106555 M 216078tree icon - Caucasian Seizures Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)]
106577 F 216081tree icon - Caucasian Seizures Adenosine deaminase 2 deficiency PMID:26867732 [Fam.D:II.2(P6)]
106842 F 216021tree icon - 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).