MCID: EPL002
MIFTS: 45

Epilepsy Syndrome malady

Genetic diseases (common), Neuronal diseases categories
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Summaries for Epilepsy Syndrome

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Sources:
8Disease Ontology, 34MedlinePlus, 4CDC, 44NINDS, 65Wikipedia, 33MalaCards
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NINDS:44 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: Epilepsy Syndrome, also known as epilepsy, is related to dravet syndrome and neuronitis. An important gene associated with Epilepsy Syndrome is ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5). The drugs primidone and anti-epileptic agent [epc] have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and temporal lobe, and related mouse phenotype nervous system.

Disease Ontology:8 A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.

MedlinePlus:34 Epilepsy is a brain disorder that causes people to have recurring seizures. the seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. people may have strange sensations and emotions or behave strangely. they may have violent muscle spasms or lose consciousness. epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. in many cases, the cause is unknown. doctors use brain scans and other tests to diagnose epilepsy. it is important to start treatment right away. there is no cure for epilepsy, but medicines can control seizures for most people. when medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. special diets can help some children with epilepsy. nih: national institute of neurological disorders and stroke

CDC:4  

Wikipedia:65 Epilepsy (from the Ancient Greek verb ???????????? meaning \"to seize, possess, or afflict\") is a group... more...

Aliases & Classifications for Epilepsy Syndrome

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8Disease Ontology, 20GeneTests, 44NINDS, 10DISEASES, 45Novoseek, 34MedlinePlus, 62UMLS, 58SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


Aliases & Descriptions:

epilepsy syndrome 8 10
epilepsy 8 20 44 45 34 62
epileptic syndrome 8


Related Diseases for Epilepsy Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Epilepsy Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 1263)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome29.7SCN1A, PCDH19
2neuronitis10.7
3post-traumatic epilepsy10.6
4pyridoxine-dependent epilepsy10.6
5tuberous sclerosis10.6
6febrile infection-related epilepsy syndrome10.6
7complex partial epilepsy10.5
8hemiplegia10.5
9tuberous sclerosis complex10.5
10amish infantile epilepsy syndrome10.5
11merrf syndrome10.4
12mesial temporal lobe epilepsy with hippocampal sclerosis10.4
13learning disability10.4
14autosomal dominant partial epilepsy with auditory features10.4
15startle epilepsy10.4
16intellectual disability10.4
17audiogenic seizures10.4
18juvenile absence epilepsy10.3
19angelman syndrome10.3
20polymicrogyria10.3
21seizure disorder10.3
22idiopathic generalized epilepsy10.3
23progressive myoclonus epilepsy, lafora type10.3
24muscular dystrophy10.3
25pcdh19-related female-limited epilepsy10.3
26prickle1-related progressive myoclonus epilepsy with ataxia10.3
27unverricht-lundborg syndrome10.3
28northern epilepsy10.3
29rett syndrome10.2
30onchocerciasis10.2
31early onset absence epilepsy10.2
32pyridoxal 5'-phosphate-dependent epilepsy10.2
33temporal epilepsy, familial10.2
34tremor10.2
35cortical dysplasia-focal epilepsy syndrome10.2
36dysembryoplastic neuroepithelial tumor10.2
37spinal muscular atrophy with progressive myoclonic epilepsy10.2
38memory impairment10.2
39lafora disease10.2
40sturge-weber syndrome10.2
41weber syndrome10.2
42landau-kleffner syndrome10.2
43microcephaly10.2
44epilepsy with generalized tonic-clonic seizures10.2
45cysticercosis10.2
46periventricular nodular heterotopia10.2
47dementia10.2
48schizencephaly10.2
49attention deficit hyperactivity disorder10.2
50tetanus10.2

Graphical network of the top 20 diseases related to Epilepsy Syndrome:



Diseases related to epilepsy syndrome

Symptoms for Epilepsy Syndrome

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Drugs & Therapeutics for Epilepsy Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Epilepsy Syndrome

Search NIH Clinical Center for Epilepsy Syndrome

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Epilepsy Syndrome

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20GeneTests
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Genetic tests related to Epilepsy Syndrome:

id Genetic test Affiliating Genes
1 Epilepsy Multi-Gene Panels20

Anatomical Context for Epilepsy Syndrome

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33MalaCards
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MalaCards organs/tissues related to Epilepsy Syndrome:

33
Brain, Testes, Temporal lobe

Animal Models for Epilepsy Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Epilepsy Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.0CNTNAP2, CLN5, POLG, SCN1A

Publications for Epilepsy Syndrome

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52PubMed
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Articles related to Epilepsy Syndrome:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association. (24214579)
2014
2
The expanding spectrum of febrile infection-related epilepsy syndrome (FIRES). (23237766)
2013
3
Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia. (24355077)
2013
4
Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome. (23744069)
2013
5
Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging. (23143783)
2013
6
Long-term follow-up of febrile infection-related epilepsy syndrome. (22191582)
2012
7
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES. (22911482)
2012
8
Focal encephalopathy with recurrent episodes of epileptic status and cluster mimicking hemiconvulsion-hemiplegia-epilepsy syndrome. (21752561)
2012
9
Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study. (21885256)
2011
10
Distinct white matter abnormalities in different idiopathic generalized epilepsy syndromes. (22092238)
2011
11
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome? (21501974)
2011
12
Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. (21883180)
2011
13
Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation. (21824570)
2011
14
Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif. (20798521)
2010
15
WITHDRAWN: Hemiconvulsion-hemiplegia-epilepsy syndrome: Follow-up of a case until adulthood. (21195509)
2010
16
Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. (20345937)
2010
17
Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. (19469847)
2009
18
The concept of the epilepsy syndrome: how useful is it in clinical practice? (19469838)
2009
19
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32. (19400876)
2009
20
Surgical treatment of delayed epilepsy in hemiconvulsion-hemiplegia-epilepsy syndrome. (18235079)
2008
21
An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. (18756473)
2008
22
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. (18625963)
2008
23
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. (17913586)
2007
24
Epilepsy syndromes associated with hypothalamic hamartomas. (17157037)
2007
25
Outcomes of newly diagnosed idiopathic generalized epilepsy syndromes in a non-pediatric setting. (17295717)
2007
26
Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria. (16948946)
2006
27
Sleep deprivation increases cortical excitability in epilepsy: syndrome-specific effects. (17000971)
2006
28
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. (16806995)
2006
29
Genes and loci involved in febrile seizures and related epilepsy syndromes. (16550559)
2006
30
Neonatal epilepsy syndromes and GEFS+: mechanistic considerations. (16359473)
2005
31
Incidence of unprovoked seizures and epilepsy in Iceland and assessment of the epilepsy syndrome classification: a prospective study. (16168931)
2005
32
Familial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria. (15726012)
2005
33
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). (16359471)
2005
34
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. (15502825)
2004
35
The genetics of febrile seizures and related epilepsy syndromes. (12850508)
2003
36
Relative influence of epileptic seizures and of epilepsy syndrome on cognitive function. (12886976)
2003
37
Childhood febrile convulsions--which factors determine the subsequent epilepsy syndrome? A retrospective study. (12200219)
2002
38
Association between factor V Leiden mutation and the hemiconvulsion, hemiplegia, and epilepsy syndrome: report of two cases. (12503653)
2002
39
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. (11914429)
2002
40
Epilepsy syndrome-specific anti-epileptic drug therapy for children. (11089816)
2000
41
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. (9894880)
1999
42
Neurophysiological findings in the northern epilepsy syndrome. (9048977)
1997
43
"Pseudo-BECRS": intracranial focal lesions suggestive of a primary partial epilepsy syndrome. (8652012)
1996
44
Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infancy with seizures of cerebellar origin. (8687198)
1996
45
Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. (8014963)
1994
46
Eyelid myoclonia with typical absences: an epilepsy syndrome. (8270934)
1993
47
The temporal lobe epilepsy syndrome elucidated through SA,ren Kierkegaard's authorship and life. (3293355)
1988
48
Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. (6580169)
1983
49
The aphasia-epilepsy syndrome in children: electroencephalographic aspects. (7067150)
1982
50
The basilar artery and the migraine-epilepsy syndrome. (13868978)
1962

Variations for Epilepsy Syndrome

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Expression for genes affiliated with Epilepsy Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Epilepsy Syndrome

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Pathways for genes affiliated with Epilepsy Syndrome

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Compounds for genes affiliated with Epilepsy Syndrome

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GO Terms for genes affiliated with Epilepsy Syndrome

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16Gene Ontology
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Biological processes related to Epilepsy Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.1CLN5, POLG
2brain developmentGO:0074209.1CNTNAP2, CLN5

Products for genes affiliated with Epilepsy Syndrome

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Sources for Epilepsy Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet