MCID: NNT041
MIFTS: 24

Neonatal Period Electroclinical Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Neonatal Period Electroclinical Syndrome

MalaCards integrated aliases for Neonatal Period Electroclinical Syndrome:

Name: Neonatal Period Electroclinical Syndrome 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050702

Summaries for Neonatal Period Electroclinical Syndrome

Disease Ontology : 12 An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.

MalaCards based summary : Neonatal Period Electroclinical Syndrome is related to benign neonatal seizures and early infantile epileptic encephalopathy. An important gene associated with Neonatal Period 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 behavior/neurological and growth/size/body region

Related Diseases for Neonatal Period Electroclinical Syndrome

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 benign neonatal seizures 32.1 KCNQ2 KCNQ3 SCN2A
2 early infantile epileptic encephalopathy 29.1 ARX CDKL5 KCNQ2 PCDH19 SCN1A SCN2A
3 febrile infection-related epilepsy syndrome 10.3 PCDH19 SCN1A
4 seizures, benign familial neonatal, 2 10.3 KCNQ2 KCNQ3
5 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1A SCN1B
6 epilepsy with generalized tonic-clonic seizures 10.1 SCN1A SCN2A TBC1D24
7 myoclonic epilepsy of infancy 10.1 GABRG2 SCN1A SCN8A
8 febrile seizures 10.1 GABRG2 KCNQ2 SCN1A SCN1B
9 coffin-siris syndrome 4 10.1 SCN2A SCN8A
10 deafness, autosomal dominant 16 10.1 SCN2A SCN3A
11 unverricht-lundborg syndrome 10.1 KCNQ3 TBC1D24
12 autosomal dominant non-syndromic intellectual disability 10.0 SCN2A STXBP1 TBC1D24
13 epilepsy, nocturnal frontal lobe, 1 9.9 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B
14 epileptic encephalopathy, early infantile, 9 9.9 CDKL5 PCDH10 PCDH19 SCN1A
15 undetermined early-onset epileptic encephalopathy 9.9 SCN3A SCN8A STXBP1
16 benign familial infantile epilepsy 9.9 KCNQ2 KCNQ3 SCN1B SCN2A SCN8A
17 adolescence-adult electroclinical syndrome 9.8 GABRA1 GABRG2 SCN1A TBC1D24
18 long qt syndrome 9.8 KCNQ2 KCNQ3 SCN1B
19 visual epilepsy 9.8 CDKL5 KCNQ2 SCN1A SCN2A STXBP1
20 childhood absence epilepsy 9.8 GABRA1 GABRG2 PCDH19 SCN1B
21 childhood electroclinical syndrome 9.8 GABRA1 GABRG2 KCNQ3 TBC1D24
22 malignant migrating partial seizures of infancy 9.8 SCN1A SCN2A SLC25A22 TBC1D24
23 epileptic encephalopathy, early infantile, 1 9.8 ARX KCNQ2 TBC1D24
24 seizures, benign familial infantile, 3 9.8 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
25 seizure disorder 9.8 CDKL5 KCNQ2 SCN1A SCN2A TBC1D24
26 benign familial neonatal epilepsy 9.7 KCNQ2 KCNQ3 SCN2A SCN3A TBC1D24
27 benign epilepsy with centrotemporal spikes 9.7 GABRG2 KCNQ2 KCNQ3 SCN1B SCN2A TBC1D24
28 mental retardation, x-linked, syndromic, hedera type 9.7 ARX GABRA1 SCN2A
29 epilepsy, idiopathic generalized 10 9.6 GABRA1 GABRG2 KCNQ3 SCN1A SCN2A TBC1D24
30 lennox-gastaut syndrome 9.5 GABRA1 GABRG2 SCN1A SNRPE STXBP1 TBC1D24
31 focal epilepsy 9.2 CDKL5 GABRG2 SCN1A SCN2A SCN3A SCN8A
32 encephalopathy 9.2 ARX CDKL5 PCDH19 SCN1A SLC25A22 STXBP1
33 generalized epilepsy with febrile seizures plus 9.1 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A
34 epilepsy, idiopathic generalized 9.0 GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10 PCDH19
35 west syndrome 9.0 ARX CDKL5 KCNQ2 SCN1A SCN2A SCN8A
36 early myoclonic encephalopathy 8.9 ARX CDKL5 GABRG2 SCN1A SCN1B SLC25A22
37 infancy electroclinical syndrome 8.5 ARX CDKL5 GABRG2 KCNQ2 PCDH10 PCDH19
38 epilepsy 7.8 ARX CDKL5 GABRA1 GABRG2 KCNQ2 KCNQ3
39 epileptic encephalopathy, early infantile, 6 7.5 CDKL5 GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10

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



Diseases related to Neonatal Period Electroclinical Syndrome

Symptoms & Phenotypes for Neonatal Period Electroclinical Syndrome

MGI Mouse Phenotypes related to Neonatal Period Electroclinical Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ARX CDKL5 GABRA1 GABRG2 KCNQ2 KCNQ3
2 growth/size/body region MP:0005378 9.9 ARX GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10
3 mortality/aging MP:0010768 9.73 ARX GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10
4 nervous system MP:0003631 9.44 ARX CDKL5 GABRA1 GABRG2 KCNQ2 KCNQ3

Drugs & Therapeutics for Neonatal Period Electroclinical Syndrome

Search Clinical Trials , NIH Clinical Center for Neonatal Period Electroclinical Syndrome

Genetic Tests for Neonatal Period Electroclinical Syndrome

Anatomical Context for Neonatal Period Electroclinical Syndrome

Publications for Neonatal Period Electroclinical Syndrome

Variations for Neonatal Period Electroclinical Syndrome

Expression for Neonatal Period Electroclinical Syndrome

Search GEO for disease gene expression data for Neonatal Period Electroclinical Syndrome.

Pathways for Neonatal Period Electroclinical Syndrome

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.16 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
2
Show member pathways
12.83 SCN1A SCN1B SCN2A SCN3A SCN8A
3
Show member pathways
12.75 GABRA1 GABRG2 KCNQ2 KCNQ3 STXBP1
4
Show member pathways
12.49 SCN1A SCN1B SCN2A SCN3A SCN8A
5
Show member pathways
12.31 SCN1A SCN1B SCN2A SCN3A SCN8A
6 12.27 KCNQ2 SCN1A SCN1B SCN2A SCN8A STXBP1
7
Show member pathways
11.74 GABRA1 SCN2A SCN3A
8
Show member pathways
11.6 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
9
Show member pathways
11.43 SCN1A SCN1B SCN2A SCN3A SCN8A
10
Show member pathways
10.71 GABRA1 GABRG2
11 10.66 GABRA1 GABRG2
12 10.64 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A

GO Terms for Neonatal Period Electroclinical Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.8 GABRG2 SCN1A SCN2A SCN3A SCN8A STXBP1
2 postsynapse GO:0098794 9.67 GABRA1 GABRG2 STXBP1
3 intercalated disc GO:0014704 9.61 SCN1A SCN1B SCN2A
4 T-tubule GO:0030315 9.58 SCN1A SCN1B SCN2A
5 dendrite membrane GO:0032590 9.54 GABRA1 GABRG2
6 GABA-A receptor complex GO:1902711 9.51 GABRA1 GABRG2
7 axon initial segment GO:0043194 9.46 KCNQ2 KCNQ3 SCN1A SCN8A
8 sodium channel complex GO:0034706 9.43 SCN1A SCN1B SCN2A
9 voltage-gated sodium channel complex GO:0001518 9.35 SCN1A SCN1B SCN2A SCN3A SCN8A
10 node of Ranvier GO:0033268 9.1 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN8A
11 membrane GO:0016020 10.34 GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10 PCDH19
12 integral component of membrane GO:0016021 10.26 GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10 PCDH19
13 plasma membrane GO:0005886 10.18 GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10 PCDH19
14 integral component of plasma membrane GO:0005887 10 GABRA1 GABRG2 KCNQ2 KCNQ3 PCDH10 PCDH19

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.98 KCNQ2 KCNQ3 SCN1A SCN2A SCN3A SCN8A
2 chemical synaptic transmission GO:0007268 9.85 GABRA1 GABRG2 KCNQ2 KCNQ3 SCN1B
3 sodium ion transport GO:0006814 9.8 SCN1A SCN1B SCN2A SCN3A SCN8A
4 sodium ion transmembrane transport GO:0035725 9.72 SCN1A SCN1B SCN2A SCN3A SCN8A
5 regulation of membrane potential GO:0042391 9.71 GABRA1 GABRG2 SCN1A
6 ion transmembrane transport GO:0034220 9.7 GABRA1 GABRG2 KCNQ2 SCN1A SCN2A SCN3A
7 neuronal action potential GO:0019228 9.67 SCN1A SCN2A SCN3A SCN8A
8 membrane depolarization during action potential GO:0086010 9.56 SCN1A SCN2A SCN3A SCN8A
9 gamma-aminobutyric acid signaling pathway GO:0007214 9.55 GABRA1 GABRG2
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.52 SCN1A SCN1B
11 synaptic transmission, GABAergic GO:0051932 9.51 GABRA1 GABRG2
12 regulation of ion transmembrane transport GO:0034765 9.5 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A
13 neuronal action potential propagation GO:0019227 9.49 SCN1A SCN1B
14 cellular response to histamine GO:0071420 9.48 GABRA1 GABRG2
15 ion transport GO:0006811 9.32 GABRA1 GABRG2 KCNQ2 KCNQ3 SCN1A SCN1B

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.73 GABRA1 GABRG2 SCN1A SCN2A SCN3A SCN8A
2 sodium channel activity GO:0005272 9.55 SCN1A SCN1B SCN2A SCN3A SCN8A
3 delayed rectifier potassium channel activity GO:0005251 9.48 KCNQ2 KCNQ3
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.46 GABRA1 GABRG2
5 GABA-A receptor activity GO:0004890 9.43 GABRA1 GABRG2
6 GABA-gated chloride ion channel activity GO:0022851 9.4 GABRA1 GABRG2
7 benzodiazepine receptor activity GO:0008503 9.37 GABRA1 GABRG2
8 voltage-gated sodium channel activity GO:0005248 9.35 SCN1A SCN1B SCN2A SCN3A SCN8A
9 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.32 GABRA1 GABRG2
10 voltage-gated ion channel activity GO:0005244 9.17 KCNQ2 KCNQ3 SCN1A SCN1B SCN2A SCN3A

Sources for Neonatal Period Electroclinical Syndrome

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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