MCID: SZR006
MIFTS: 30

Seizure Disorder malady

Summaries for Seizure Disorder

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43NINDS, 63Wikipedia, 32MalaCards
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NINDS:43 The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activity?from illness to brain damage to abnormal brain development?can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.

MalaCards: Seizure Disorder is related to scn1a-related seizure disorders and early myoclonic encephalopathy. An important gene associated with Seizure Disorder is SCN2A (sodium channel, voltage-gated, type II, alpha subunit), and among its related pathways are Sodium channels and transporters: inward current and Synaptic transmission: ion currents. The compounds atx-ii and bc-iii have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related mouse phenotypes are nervous system and behavior/neurological.

Wikipedia:63 Epilepsy (from the Ancient Greek verb ἐπιλαμβάνειν meaning \"to seize, possess, or... more...

Aliases & Classifications for Seizure Disorder

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43NINDS
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Aliases & Descriptions:

seizure disorder 43


Related Diseases for Seizure Disorder

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17GeneCards, 18GeneDecks
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Diseases in the Seizure Disorder family:

Scn1a-Related Seizure Disorders

Diseases related to Seizure Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1scn1a-related seizure disorders30.1SCN1A
2early myoclonic encephalopathy29.7SCN1A, SCN1B
3kifafa seizure disorder10.3
4panic disorder10.2
5insulinoma10.2
6aphasia10.1
7generalized epilepsy with febrile seizures plus10.0SCN1B
8epilepsy syndrome10.0SCN2A
9rett syndrome10.0CDKL5
10dravet syndrome10.0SCN1A, SCN1B
11neuropathy10.0SCN9A, POLG
12multiple sclerosis10.0HMGCR
13idiopathic generalized epilepsy10.0KCNQ2, SCN1A
14cholera10.0VIP
15benign familial neonatal-infantile seizures10.0SCN1B, SCN1A, KCNQ2
16frontal lobe epilepsy10.0KCNQ2, SCN1A, SCN1B
17febrile seizures10.0SCN1A, SCN1B, KCNQ2
18glucagonoma10.0GHRL, VIP
19brain disease10.0SCN1A, PNPO, CDKL5, POLG
20lipodystrophy10.0POLG, HMGCR
21prion disease10.0KCNQ2, CDKL5, SCN1A, POLG
22temporal lobe epilepsy10.0
23microcephaly10.0
24anxiety disorder10.0
25long qt syndrome10.0
26personality disorder10.0
27psychotic disorder10.0
28moyamoya disease9.8
29atypical autism9.8
30merrf syndrome9.8
31von willebrand's disease9.8
32expressive language disorder9.8
33cysticercosis9.8
34arteriovenous malformation9.8
35hyperprolactinemia9.8
36cerebritis9.8
37hypoparathyroidism9.8
38wegener's granulomatosis9.8
39fukuyama congenital muscular dystrophy9.8
40west syndrome9.8
41obsessive-compulsive disorder9.8
42multiple personality disorder9.8
43panhypopituitarism9.8
44osteomalacia9.8
45agoraphobia9.8
46japanese encephalitis9.8
47pain disorder9.8
48cleft lip9.8
49neuronitis9.8
50cleft palate9.8

Graphical network of the top 20 diseases related to Seizure Disorder:



Diseases related to seizure disorder

Clinical Features for Seizure Disorder

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Drugs & Therapeutics for Seizure Disorder

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Seizure Disorder

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Anatomical Context for Seizure Disorder

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32MalaCards
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MalaCards organs/tissues related to Seizure Disorder:

32
Brain, Testes

Animal Models for Seizure Disorder or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Seizure Disorder:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7CELF4, SEZ6L2, CDKL5, POLG, SCN1A, SCN9A
2MP:00053867.5SCN1A, SCN9A, KCNQ2, GHRL, CDKL5, SEZ6L2
3MP:00107687.4PNPO, HMGCR, POLG, SCN1A, SCN9A, SCN1B

Publications for Seizure Disorder

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Genetic Variations for Seizure Disorder

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Expression for genes affiliated with Seizure Disorder

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Seizure Disorder

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Pathways for genes affiliated with Seizure Disorder

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12EMD Millipore, 53Reactome
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Pathways related to Seizure Disorder according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SCN2A, SCN9A, SCN1A
29.4SCN2A, SCN9A, SCN1A, KCNQ2
39.2SCN9A, SCN2A, SCN1B, SCN1A, KCNQ2
4
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9.2SCN9A, SCN1B, SCN2A, SCN1A, KCNQ2

Compounds for genes affiliated with Seizure Disorder

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28IUPHAR, 44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 2BitterDB, 24HMDB
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Compounds related to Seizure Disorder according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1atx-ii2810.3SCN1A, SCN2A
2bc-iii2810.2SCN2A, SCN1A
3aft-ii2810.2SCN1A, SCN2A
4lamotrigine44 1111.1SCN1A, SCN2A
5saxitoxin2810.1SCN2A, SCN9A, SCN1A
6batrachotoxin2810.1SCN2A, SCN1A, SCN9A
7ranolazine44 1111.0HMGCR, SCN9A
8phrixotoxin 3599.9SCN1B, SCN1A, SCN9A, SCN2A
9tetrodotoxin citrate599.9SCN1A, SCN9A, SCN1B, SCN2A
10qx 314 chloride599.9SCN1A, SCN9A, SCN1B, SCN2A
11veratridine44 59 2811.9SCN1A, SCN1B, SCN2A, SCN9A
12zonisamide44 1110.9SCN1B, SCN2A, SCN1A, SCN9A
13oxyntomodulin44 5910.7VIP, GHRL
14acipimox44 2810.6HMGCR, GHRL
15tetrodotoxin44 59 2811.5SCN1B, SCN2A, SCN9A, SCN1A, VIP
16erythromycin44 49 2 1112.4HMGCR, VIP, GHRL
17sodium44 2410.4SCN1A, SCN9A, SCN1B, SCN2A, KCNQ2
18potassium44 11 2411.2VIP, KCNQ2, SCN1B, SCN1A, GHRL
19histamine44 28 2411.0HMGCR, GHRL, KCNQ2, VIP
20thyroxine44 2410.0VIP, HMGCR, GHRL
21lactate449.0VIP, POLG, HMGCR, GHRL

GO Terms for genes affiliated with Seizure Disorder

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16Gene Ontology
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Cellular components related to Seizure Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon initial segmentGO:0431949.8SCN1A, KCNQ2
2T-tubuleGO:0303159.7SCN2A, SCN1B, SCN1A
3voltage-gated sodium channel complexGO:0015189.6SCN1A, SCN9A, SCN1B, SCN2A
4intercalated discGO:0147049.5SCN1A, SCN1B, SCN2A
5node of RanvierGO:0332689.4SCN1A, SCN1B, SCN2A, KCNQ2

Biological processes related to Seizure Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of action potential in neuronGO:01922810.0SCN1A, SCN9A
2neuronal action potential propagationGO:0192279.7SCN1A, SCN1B
3sodium ion transportGO:0068149.7SCN1A, SCN9A, SCN2A

Molecular functions related to Seizure Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:0052489.6SCN1A, SCN9A, SCN1B, SCN2A

Products for genes affiliated with Seizure Disorder

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Sources for Seizure Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet