MCID: EPL002
MIFTS: 46

Epilepsy Syndrome malady

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

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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 based summary: Epilepsy Syndrome, also known as epilepsy, is related to dravet syndrome and brain disease. 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:33 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:3  

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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Epilepsy Syndrome, Aliases & Descriptions:

Name: Epilepsy Syndrome 8 10
Epilepsy 8 20 43 44 33 62
 
Epileptic Syndrome 8


Classifications:

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


Related Diseases for Epilepsy Syndrome

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

(show top 50)    (show all 1268)
idRelated DiseaseScoreTop Affiliating Genes
1dravet syndrome29.6SCN1A, PCDH19
2brain disease29.1SCN1A, POLG, CLN5
3neuronitis10.7
4pyridoxine-dependent epilepsy10.7
5post-traumatic epilepsy10.7
6tuberous sclerosis10.6
7febrile infection-related epilepsy syndrome10.6
8hemiplegia10.6
9complex partial epilepsy10.6
10tuberous sclerosis complex10.5
11amish infantile epilepsy syndrome10.5
12merrf syndrome10.5
13autosomal dominant partial epilepsy with auditory features10.4
14mesial temporal lobe epilepsy with hippocampal sclerosis10.4
15startle epilepsy10.4
16learning disability10.4
17juvenile absence epilepsy10.4
18progressive myoclonus epilepsy, lafora type10.4
19polymicrogyria10.4
20audiogenic seizures10.4
21seizure disorder10.4
22angelman syndrome10.3
23prickle1-related progressive myoclonus epilepsy with ataxia10.3
24pcdh19-related female-limited epilepsy10.3
25idiopathic generalized epilepsy10.3
26muscular dystrophy10.3
27unverricht-lundborg syndrome10.3
28pyridoxal 5'-phosphate-dependent epilepsy10.3
29spinal muscular atrophy with progressive myoclonic epilepsy10.3
30northern epilepsy10.3
31onchocerciasis10.3
32early onset absence epilepsy10.3
33lafora disease10.3
34temporal epilepsy, familial10.3
35epilepsy with generalized tonic-clonic seizures10.2
36rett syndrome10.2
37dementia10.2
38tremor10.2
39memory impairment10.2
40cortical dysplasia-focal epilepsy syndrome10.2
41dysembryoplastic neuroepithelial tumor10.2
42periventricular nodular heterotopia10.2
43sturge-weber syndrome10.2
44weber syndrome10.2
45myoclonic epilepsy myopathy sensory ataxia10.2
46cysticercosis10.2
47hemimegalencephaly10.2
48schizencephaly10.2
49cerebellar ataxia10.2
50landau-kleffner syndrome10.2

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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Drug clinical trials:

Search ClinicalTrials for Epilepsy Syndrome

Search NIH Clinical Center for Epilepsy Syndrome

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Epilepsy Syndrome

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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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MalaCards organs/tissues related to Epilepsy Syndrome:

32
Brain, Testes, Temporal lobe

Animal Models for Epilepsy Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Epilepsy Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.0CNTNAP2, CLN5, POLG, SCN1A

Publications for Epilepsy Syndrome

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Articles related to Epilepsy Syndrome:

(show top 50)    (show all 121)
idTitleAuthorsYear
1
Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association. (24214579)
2014
2
Hemiconvulsion-hemiplegia-epilepsy syndrome: clinical course and neuroradiological features in a 20-month-old girl. (24614781)
2014
3
Lidocaine Treatment in Refractory Status Epilepticus Resulting from Febrile Infection-Related Epilepsy Syndrome: A Case Report and Follow-Up. (25343330)
2014
4
Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). (24639375)
2014
5
Cognitive outcomes in febrile infection-related epilepsy syndrome treated with the ketogenic diet. (25332495)
2014
6
The expanding spectrum of febrile infection-related epilepsy syndrome (FIRES). (23237766)
2013
7
Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia. (24355077)
2013
8
Altered cortical GABAA receptor composition, physiology, and endocytosis in a mouse model of a human genetic absence epilepsy syndrome. (23744069)
2013
9
Hemiconvulsion-hemiplegia-epilepsy syndrome with initially normal magnetic resonance imaging. (23143783)
2013
10
Long-term follow-up of febrile infection-related epilepsy syndrome. (22191582)
2012
11
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES. (22911482)
2012
12
Focal encephalopathy with recurrent episodes of epileptic status and cluster mimicking hemiconvulsion-hemiplegia-epilepsy syndrome. (21752561)
2012
13
Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study. (21885256)
2011
14
Distinct white matter abnormalities in different idiopathic generalized epilepsy syndromes. (22092238)
2011
15
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome? (21501974)
2011
16
Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. (21883180)
2011
17
Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation. (21824570)
2011
18
Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif. (20798521)
2010
19
WITHDRAWN: Hemiconvulsion-hemiplegia-epilepsy syndrome: Follow-up of a case until adulthood. (21195509)
2010
20
Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. (20345937)
2010
21
The concept of the epilepsy syndrome: how useful is it in clinical practice? (19469838)
2009
22
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. (19666879)
2009
23
Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32. (19400876)
2009
24
Surgical treatment of delayed epilepsy in hemiconvulsion-hemiplegia-epilepsy syndrome. (18235079)
2008
25
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. (18625963)
2008
26
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. (17913586)
2007
27
Epilepsy syndromes associated with hypothalamic hamartomas. (17157037)
2007
28
Outcomes of newly diagnosed idiopathic generalized epilepsy syndromes in a non-pediatric setting. (17295717)
2007
29
Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria. (16948946)
2006
30
Sleep deprivation increases cortical excitability in epilepsy: syndrome-specific effects. (17000971)
2006
31
Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. (16806995)
2006
32
Neonatal epilepsy syndromes and GEFS+: mechanistic considerations. (16359473)
2005
33
Incidence of unprovoked seizures and epilepsy in Iceland and assessment of the epilepsy syndrome classification: a prospective study. (16168931)
2005
34
Familial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria. (15726012)
2005
35
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+). (16359471)
2005
36
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. (15502825)
2004
37
The genetics of febrile seizures and related epilepsy syndromes. (12850508)
2003
38
Relative influence of epileptic seizures and of epilepsy syndrome on cognitive function. (12886976)
2003
39
Childhood febrile convulsions--which factors determine the subsequent epilepsy syndrome? A retrospective study. (12200219)
2002
40
Association between factor V Leiden mutation and the hemiconvulsion, hemiplegia, and epilepsy syndrome: report of two cases. (12503653)
2002
41
Ring chromosome 20 epilepsy syndrome in children: electroclinical features. (11914429)
2002
42
Epilepsy syndrome-specific anti-epileptic drug therapy for children. (11089816)
2000
43
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. (9894880)
1999
44
"Pseudo-BECRS": intracranial focal lesions suggestive of a primary partial epilepsy syndrome. (8652012)
1996
45
Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infancy with seizures of cerebellar origin. (8687198)
1996
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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Expression patterns in normal tissues for genes affiliated with Epilepsy Syndrome

Search GEO for disease gene expression data for Epilepsy Syndrome.

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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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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  • Antibodies
  • Proteins
  • Lysates

Sources for Epilepsy Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet