MCID: NNT041
MIFTS: 23

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 KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Circadian entrainment. Related phenotypes are behavior/neurological and mortality/aging

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 35)
# Related Disease Score Top Affiliating Genes
1 benign neonatal seizures 32.0 KCNQ2 KCNQ3 SCN2A
2 early infantile epileptic encephalopathy 30.4 ARX CDKL5 GNAO1 KCNQ2 KCNT1 SCN1A
3 seizures, benign familial neonatal, 2 10.2 KCNQ2 KCNQ3
4 childhood electroclinical syndrome 10.1 KCNQ3 TBC1D24
5 mental retardation, x-linked, syndromic, hedera type 10.1 ARX SCN2A
6 adolescence-adult electroclinical syndrome 10.1 SCN1A TBC1D24
7 unverricht-lundborg syndrome 10.1 KCNQ3 TBC1D24
8 myoclonic epilepsy of infancy 10.1 SCN1A SCN8A
9 coffin-siris syndrome 4 10.1 SCN2A SCN8A
10 autosomal dominant non-syndromic intellectual disability 10.1 SCN2A STXBP1 TBC1D24
11 epilepsy, nocturnal frontal lobe, 1 10.1 KCNQ2 KCNQ3 SCN1A
12 macrocephaly/megalencephaly syndrome, autosomal recessive 10.1 AKT3 STXBP1
13 epileptic encephalopathy, early infantile, 1 10.1 ARX KCNQ2 TBC1D24
14 epilepsy with generalized tonic-clonic seizures 10.1 SCN1A SCN2A TBC1D24
15 benign familial neonatal epilepsy 10.1 KCNQ2 KCNQ3 SCN2A TBC1D24
16 seizures, benign familial infantile, 3 10.0 KCNQ2 KCNQ3 SCN1A SCN2A
17 epilepsy, idiopathic generalized 10 10.0 KCNQ3 SCN1A SCN2A TBC1D24
18 undetermined early-onset epileptic encephalopathy 9.9 SCN8A STXBP1
19 lennox-gastaut syndrome 9.9 AKT3 SCN1A STXBP1 TBC1D24
20 infantile epileptic encephalopathy 9.9 CDKL5 SCN1A SCN2A SCN8A STXBP1
21 benign epilepsy with centrotemporal spikes 9.9 KCNQ2 KCNQ3 KCNT1 SCN2A TBC1D24
22 malignant migrating partial seizures of infancy 9.8 KCNT1 SCN1A SCN2A SLC25A22 TBC1D24
23 generalized epilepsy with febrile seizures plus 9.8 KCNQ2 KCNQ3 SCN1A SCN2A SCN8A TBC1D24
24 autism 9.8 ARX CDKL5 SCN1A SCN2A
25 early myoclonic encephalopathy 9.7 ARX CDKL5 SCN1A SHOX2 SLC25A22 TBC1D24
26 benign familial infantile epilepsy 9.7 KCNQ2 KCNQ3 PNPO SCN2A SCN8A
27 epilepsy, idiopathic generalized 9.7 ARX CDKL5 KCNQ2 KCNQ3 SCN1A SCN2A
28 focal epilepsy 9.6 CDKL5 KCNT1 SCN1A SCN2A SCN8A TBC1D24
29 seizure disorder 9.6 CDKL5 KCNQ2 PNPO SCN1A SCN2A TBC1D24
30 visual epilepsy 9.6 CDKL5 KCNQ2 PNPO SCN1A SCN2A STXBP1
31 infancy electroclinical syndrome 9.6 ARX CDKL5 KCNQ2 SCN1A SCN2A SHOX2
32 encephalopathy 9.4 ARX CDKL5 GNAO1 PNPO SCN1A SLC25A22
33 west syndrome 9.2 ARX CDKL5 KCNQ2 KCNT1 SCN1A SCN2A
34 epileptic encephalopathy, early infantile, 6 9.0 CDKL5 KCNQ2 KCNQ3 KCNT1 PNPO SCN1A
35 epilepsy 8.9 ARX CDKL5 KCNQ2 KCNQ3 KCNT1 PNPO

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 AKT3 ARX CDKL5 GNAO1 KCNQ2 KCNQ3
2 mortality/aging MP:0010768 9.65 AKT3 ARX GNAO1 KCNQ2 KCNQ3 SCN1A
3 nervous system MP:0003631 9.4 AKT3 ARX CDKL5 GNAO1 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 AKT3 GNAO1 KCNT1 KCNV1 SCN1A SCN2A
2
Show member pathways
12.7 AKT3 GNAO1 KCNQ2 KCNQ3 SCN1A
3
Show member pathways
12.67 AKT3 GNAO1 SCN1A SCN2A SCN8A
4
Show member pathways
12.25 KCNT1 KCNV1 SCN1A SCN2A SCN8A
5 12.17 GNAO1 KCNQ2 SCN1A SCN2A SCN8A STXBP1
6
Show member pathways
11.8 KCNQ2 KCNQ3 KCNV1
7
Show member pathways
11.45 KCNQ2 KCNQ3 SCN1A SCN2A SCN8A
8
Show member pathways
11.37 SCN1A SCN2A SCN8A
9 10.5 KCNQ2 KCNQ3 SCN1A SCN2A SCN8A

GO Terms for Neonatal Period Electroclinical Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.67 SCN1A SCN2A SCN8A STXBP1
2 voltage-gated potassium channel complex GO:0008076 9.5 KCNQ2 KCNQ3 KCNV1
3 voltage-gated sodium channel complex GO:0001518 9.33 SCN1A SCN2A SCN8A
4 sodium channel complex GO:0034706 9.26 SCN1A SCN2A
5 axon initial segment GO:0043194 9.26 KCNQ2 KCNQ3 SCN1A SCN8A
6 node of Ranvier GO:0033268 9.02 KCNQ2 KCNQ3 SCN1A SCN2A SCN8A
7 plasma membrane GO:0005886 10.1 GNAO1 KCNQ2 KCNQ3 KCNT1 KCNV1 SCN1A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.83 ARX KCNQ2 SCN2A SCN8A SHOX2
2 ion transmembrane transport GO:0034220 9.78 KCNQ2 SCN1A SCN2A SCN8A
3 potassium ion transport GO:0006813 9.71 KCNQ2 KCNQ3 KCNT1 KCNV1
4 transmembrane transport GO:0055085 9.7 KCNQ2 KCNQ3 KCNV1 SCN1A SCN2A SCN8A
5 sodium ion transport GO:0006814 9.67 SCN1A SCN2A SCN8A
6 potassium ion transmembrane transport GO:0071805 9.67 KCNQ2 KCNQ3 KCNT1 KCNV1
7 sodium ion transmembrane transport GO:0035725 9.63 SCN1A SCN2A SCN8A
8 ion transport GO:0006811 9.56 KCNQ2 KCNQ3 KCNT1 KCNV1 SCN1A SCN2A
9 neuronal action potential GO:0019228 9.5 SCN1A SCN2A SCN8A
10 membrane depolarization during action potential GO:0086010 9.43 SCN1A SCN2A SCN8A
11 regulation of ion transmembrane transport GO:0034765 9.1 KCNQ2 KCNQ3 KCNV1 SCN1A SCN2A SCN8A

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 9.54 SCN1A SCN2A SCN8A
2 voltage-gated potassium channel activity GO:0005249 9.5 KCNQ2 KCNQ3 KCNV1
3 sodium channel activity GO:0005272 9.43 SCN1A SCN2A SCN8A
4 delayed rectifier potassium channel activity GO:0005251 9.4 KCNQ2 KCNQ3
5 voltage-gated sodium channel activity GO:0005248 9.33 SCN1A SCN2A SCN8A
6 potassium channel activity GO:0005267 9.26 KCNQ2 KCNQ3 KCNT1 KCNV1
7 voltage-gated ion channel activity GO:0005244 9.1 KCNQ2 KCNQ3 KCNV1 SCN1A SCN2A SCN8A

Sources for Neonatal Period Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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