MCID: ELC007
MIFTS: 30

Electroclinical Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Electroclinical Syndrome

MalaCards integrated aliases for Electroclinical Syndrome:

Name: Electroclinical Syndrome 12 15
Electro-Clinical Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050701

Summaries for Electroclinical Syndrome

Disease Ontology : 12 An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.

MalaCards based summary : Electroclinical Syndrome, also known as electro-clinical syndrome, is related to neonatal period electroclinical syndrome and adolescence-adult electroclinical syndrome. An important gene associated with Electroclinical Syndrome is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Developmental Biology and G-Beta Gamma Signaling. Related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and behavior/neurological

Related Diseases for Electroclinical Syndrome

Diseases in the Electroclinical Syndrome family:

Infancy Electroclinical Syndrome

Diseases related to Electroclinical Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 neonatal period electroclinical syndrome 33.0 CDKL5 KCNQ2 KCNQ3 SCN1A SCN2A SCN8A
2 adolescence-adult electroclinical syndrome 33.0 CACNA1H CSTB EFHC1 GABRA1 GABRB3 GABRG2
3 childhood electroclinical syndrome 32.7 CACNA1H EFHC1 GABRA1 GABRB3 GABRG2 KCNQ3
4 progressive myoclonus epilepsy 32.0 CSTB EPM2A NHLRC1
5 benign neonatal seizures 31.9 KCNQ2 KCNQ3 SCN2A
6 infancy electroclinical syndrome 31.9 CDKL5 GABRG2 KCNQ2 PCDH10 PCDH19 POMC
7 juvenile absence epilepsy 31.8 CACNA1H EFHC1 GABRA1
8 early onset absence epilepsy 31.7 PRRT2 SCN1B
9 epilepsy with generalized tonic-clonic seizures 31.6 CACNA1H CSTB EFHC1 SCN1A SCN2A
10 west syndrome 31.4 CDKL5 KCNQ2 POMC SCN1A SCN2A SCN8A
11 early infantile epileptic encephalopathy 31.0 CDKL5 KCNQ2 PCDH19 SCN1A SCN2A SCN8A
12 benign familial infantile epilepsy 31.0 KCNQ2 KCNQ3 PRRT2 SCN1B SCN2A SCN8A
13 lennox-gastaut syndrome 31.0 GABRA1 GABRB3 GABRG2 POMC SCN1A STXBP1
14 epilepsy, idiopathic generalized 10 30.8 CSTB EFHC1 GABRA1 GABRB3 GABRG2 KCNQ3
15 childhood absence epilepsy 30.8 CACNA1H EFHC1 GABRA1 GABRB3 GABRG2 PCDH19
16 epilepsy 26.9 CACNA1H CDKL5 CSTB EFHC1 EPM2A GABRA1
17 epileptic encephalopathy, infantile or early childhood, 1 11.0
18 epileptic encephalopathy, infantile or early childhood, 2 11.0
19 reflex epilepsy 11.0
20 febrile infection-related epilepsy syndrome 10.4 PCDH19 SCN1A
21 myoclonus epilepsy 10.3 CSTB EPM2A NHLRC1
22 myoclonus 10.3 CSTB EPM2A NHLRC1
23 seizures, benign familial neonatal, 2 10.3 KCNQ2 KCNQ3
24 myoclonic epilepsy of lafora 10.3 CSTB EPM2A NHLRC1
25 generalized epilepsy with febrile seizures plus, type 1 10.3 SCN1A SCN1B
26 malignant migrating partial seizures of infancy 10.3 SCN1A SCN2A
27 familial or sporadic hemiplegic migraine 10.3 PRRT2 SCN1A
28 myoclonic epilepsy of unverricht and lundborg 10.2 CSTB EPM2A
29 myoclonic epilepsy of infancy 10.2 GABRG2 SCN1A SCN8A
30 encephalopathy 10.2 CDKL5 PCDH19 SCN1A STXBP1
31 febrile seizures 10.2 GABRG2 KCNQ2 SCN1A SCN1B
32 seizure disorder 10.1 CDKL5 KCNQ2 SCN1A SCN2A
33 convulsions, familial infantile, with paroxysmal choreoathetosis 10.1 PRRT2 SCN8A
34 mental retardation, x-linked, syndromic, hedera type 10.1 GABRA1 SCN2A
35 unverricht-lundborg syndrome 10.1 CSTB EFHC1 EPM2A KCNQ3 NHLRC1
36 benign familial neonatal epilepsy 10.0 KCNQ2 KCNQ3 PRRT2 SCN2A
37 childhood disintegrative disease 10.0 GABRB3 POMC
38 epilepsy, nocturnal frontal lobe, 1 10.0 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
39 epileptic encephalopathy, early infantile, 9 10.0 CDKL5 PCDH10 PCDH19 SCN1A
40 coffin-siris syndrome 4 9.9 SCN2A SCN8A
41 seizures, benign familial infantile, 3 9.9 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
42 early myoclonic encephalopathy 9.9 CDKL5 CSTB EPM2A GABRG2 SCN1A SCN1B
43 angelman syndrome 9.8 CDKL5 GABRB3 GABRG2
44 ring chromosome 20 9.8
45 epilepsy with myoclonic absences 9.8
46 visual epilepsy 9.8 CDKL5 KCNQ2 PRRT2 SCN1A SCN2A STXBP1
47 focal epilepsy 9.8 CACNA1H CDKL5 GABRG2 SCN1A SCN2A SCN8A
48 generalized epilepsy with febrile seizures plus 9.7 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
49 benign epilepsy with centrotemporal spikes 9.5 CSTB EPM2A GABRG2 KCNQ2 KCNQ3 PRRT2
50 epilepsy, idiopathic generalized 9.1 CACNA1H EFHC1 GABRA1 GABRG2 KCNQ2 KCNQ3

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



Diseases related to Electroclinical Syndrome

Symptoms & Phenotypes for Electroclinical Syndrome

GenomeRNAi Phenotypes related to Electroclinical Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 CSTB EFHC1 GABRA1 KCNQ2 NHLRC1 SCN1A

MGI Mouse Phenotypes related to Electroclinical Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 CACNA1H CDKL5 CSTB EFHC1 EPM2A GABRA1
2 growth/size/body region MP:0005378 10.17 CACNA1H CSTB EPM2A GABRA1 GABRB3 GABRG2
3 mortality/aging MP:0010768 10.07 EPM2A GABRA1 GABRB3 GABRG2 KCNQ2 KCNQ3
4 nervous system MP:0003631 9.96 CACNA1H CDKL5 CSTB EFHC1 EPM2A GABRA1
5 muscle MP:0005369 9.7 CACNA1H CSTB EFHC1 EPM2A GABRA1 NHLRC1
6 no phenotypic analysis MP:0003012 9.23 CDKL5 CSTB GABRA1 GABRB3 NHLRC1 POMC

Drugs & Therapeutics for Electroclinical Syndrome

Search Clinical Trials , NIH Clinical Center for Electroclinical Syndrome

Genetic Tests for Electroclinical Syndrome

Anatomical Context for Electroclinical Syndrome

Publications for Electroclinical Syndrome

Articles related to Electroclinical Syndrome:

# Title Authors Year
1
Absence status epilepsy: report of a rare electro-clinical syndrome. ( 24823752 )
2014
2
The evolving electroclinical syndrome of "epilepsy with ring chromosome 20". ( 22000954 )
2012
3
Atonic variant of benign childhood epilepsy with centrotemporal spikes (atonic-BECTS): a distinct electro-clinical syndrome. ( 21982812 )
2012
4
Teaching Video NeuroImages: epilepsy with myoclonic absences: a distinct electroclinical syndrome. ( 21646619 )
2011
5
Infantile spasms : electroclinical syndrome. ( 29542453 )
1996
6
Ictal confusion--an electroclinical syndrome report of three adult cases with unusual features. ( 6295681 )
1982

Variations for Electroclinical Syndrome

Expression for Electroclinical Syndrome

Search GEO for disease gene expression data for Electroclinical Syndrome.

Pathways for Electroclinical Syndrome

Pathways related to Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 CACNA1H KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
2
Show member pathways
12.87 CACNA1H POMC SCN1A SCN1B SCN2A SCN8A
3
Show member pathways
12.76 GABRA1 GABRB3 GABRG2 KCNQ2 KCNQ3 STXBP1
4 12.23 KCNQ2 POMC SCN1A SCN1B SCN2A SCN8A
5
Show member pathways
11.83 GABRA1 GABRB3 GABRG2
6
Show member pathways
11.53 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
7
Show member pathways
11.5 SCN1A SCN1B SCN2A SCN8A
8 11.4 CACNA1H KCNQ2 KCNQ3
9
Show member pathways
11.2 GABRA1 GABRB3 GABRG2
10 11.15 GABRA1 GABRB3 GABRG2
11
Show member pathways
10.75 GABRA1 GABRG2
12 10.66 GABRA1 GABRB3 GABRG2
13 10.58 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A

GO Terms for Electroclinical Syndrome

Cellular components related to Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.97 GABRA1 GABRB3 GABRG2 PRRT2 SCN8A
2 synapse GO:0045202 9.96 CDKL5 GABRA1 GABRB3 GABRG2 PRRT2
3 axon GO:0030424 9.85 GABRG2 PRRT2 SCN1A SCN2A SCN8A STXBP1
4 postsynaptic membrane GO:0045211 9.83 GABRA1 GABRB3 GABRG2 PRRT2
5 postsynapse GO:0098794 9.74 GABRA1 GABRG2 STXBP1
6 GABA-ergic synapse GO:0098982 9.69 GABRA1 GABRB3 GABRG2
7 chloride channel complex GO:0034707 9.67 GABRA1 GABRB3 GABRG2
8 intercalated disc GO:0014704 9.65 SCN1A SCN1B SCN2A
9 T-tubule GO:0030315 9.63 SCN1A SCN1B SCN2A
10 GABA-A receptor complex GO:1902711 9.61 GABRA1 GABRB3 GABRG2
11 axon initial segment GO:0043194 9.46 KCNQ2 KCNQ3 SCN1A SCN8A
12 sodium channel complex GO:0034706 9.43 SCN1A SCN1B SCN2A
13 voltage-gated sodium channel complex GO:0001518 9.26 SCN1A SCN1B SCN2A SCN8A
14 node of Ranvier GO:0033268 9.1 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
15 membrane GO:0016020 10.42 CACNA1H EPM2A GABRA1 GABRB3 GABRG2 KCNQ2
16 integral component of membrane GO:0016021 10.35 CACNA1H GABRA1 GABRB3 GABRG2 KCNQ2 KCNQ3
17 plasma membrane GO:0005886 10.2 CACNA1H EPM2A GABRA1 GABRB3 GABRG2 KCNQ2
18 integral component of plasma membrane GO:0005887 10.06 CACNA1H GABRA1 GABRB3 GABRG2 KCNQ2 KCNQ3

Biological processes related to Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.99 CACNA1H KCNQ2 KCNQ3 SCN1A SCN2A SCN8A
2 chemical synaptic transmission GO:0007268 9.85 GABRA1 GABRB3 GABRG2 KCNQ2 KCNQ3 SCN1B
3 sodium ion transport GO:0006814 9.8 SCN1A SCN1B SCN2A SCN8A
4 regulation of membrane potential GO:0042391 9.8 CACNA1H GABRA1 GABRB3 GABRG2 SCN1A
5 sodium ion transmembrane transport GO:0035725 9.76 SCN1A SCN1B SCN2A SCN8A
6 chloride transmembrane transport GO:1902476 9.73 GABRA1 GABRB3 GABRG2
7 chloride transport GO:0006821 9.72 GABRA1 GABRB3 GABRG2
8 nervous system process GO:0050877 9.7 GABRA1 GABRB3 GABRG2
9 regulation of ion transmembrane transport GO:0034765 9.7 CACNA1H KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
10 gamma-aminobutyric acid signaling pathway GO:0007214 9.65 GABRA1 GABRB3 GABRG2
11 neuronal action potential GO:0019228 9.62 CACNA1H SCN1A SCN2A SCN8A
12 cellular response to histamine GO:0071420 9.61 GABRA1 GABRB3 GABRG2
13 glycogen biosynthetic process GO:0005978 9.6 EPM2A NHLRC1
14 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.59 CACNA1H STXBP1
15 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 SCN1A SCN1B
16 neuromuscular process controlling posture GO:0050884 9.58 PRRT2 SCN1A
17 synaptic transmission, GABAergic GO:0051932 9.57 GABRA1 GABRG2
18 membrane depolarization during action potential GO:0086010 9.56 CACNA1H SCN1A SCN2A SCN8A
19 ion transmembrane transport GO:0034220 9.56 CACNA1H GABRA1 GABRB3 GABRG2 KCNQ2 SCN1A
20 neuronal action potential propagation GO:0019227 9.54 SCN1A SCN1B
21 ion transport GO:0006811 9.32 CACNA1H GABRA1 GABRB3 GABRG2 KCNQ2 KCNQ3

Molecular functions related to Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.63 GABRA1 GABRB3 GABRG2
2 extracellular ligand-gated ion channel activity GO:0005230 9.61 GABRA1 GABRB3 GABRG2
3 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.58 GABRA1 GABRB3 GABRG2
4 sodium channel activity GO:0005272 9.56 SCN1A SCN1B SCN2A SCN8A
5 GABA-A receptor activity GO:0004890 9.54 GABRA1 GABRB3 GABRG2
6 syntaxin-1 binding GO:0017075 9.51 PRRT2 STXBP1
7 GABA-gated chloride ion channel activity GO:0022851 9.5 GABRA1 GABRB3 GABRG2
8 benzodiazepine receptor activity GO:0008503 9.49 GABRA1 GABRG2
9 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.48 GABRA1 GABRG2
10 voltage-gated sodium channel activity GO:0005248 9.46 SCN1A SCN1B SCN2A SCN8A
11 ion channel activity GO:0005216 9.43 GABRA1 GABRB3 GABRG2 SCN1A SCN2A SCN8A
12 voltage-gated ion channel activity GO:0005244 9.17 CACNA1H KCNQ2 KCNQ3 SCN1A SCN1B SCN2A

Sources for Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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