MCID: NNT041
MIFTS: 21

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 childhood electroclinical syndrome. An important gene associated with Neonatal Period Electroclinical Syndrome is MT-TK (Mitochondrially Encoded TRNA Lysine), and among its related pathways/superpathways are Neuroscience and Potassium Channels. Related phenotypes are behavior/neurological and nervous system

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 childhood electroclinical syndrome 10.4 KCNQ2 TBC1D24
3 unverricht-lundborg syndrome 10.3 KCNQ3 MT-TK TBC1D24
4 mitochondrial neurogastrointestinal encephalomyopathy 10.3 MT-TK POLG
5 mental retardation, x-linked, syndromic, hedera type 10.2 ARX SCN2A
6 adolescence-adult electroclinical syndrome 10.2 SCN1A TBC1D24
7 epileptic encephalopathy, early infantile, 1 10.2 ARX KCNQ2 TBC1D24
8 mitochondrial dna depletion syndrome 1 10.2 MT-TK POLG
9 benign familial infantile epilepsy 10.1 KCNQ2 KCNQ3 SCN2A
10 epilepsy, nocturnal frontal lobe, 1 10.1 KCNQ2 KCNQ3 SCN1A
11 febrile infection-related epilepsy syndrome 10.0 POLG SCN1A
12 epilepsy with generalized tonic-clonic seizures 10.0 SCN1A SCN2A TBC1D24
13 chronic progressive external ophthalmoplegia 9.9 MT-TK POLG
14 benign familial neonatal epilepsy 9.9 KCNQ2 KCNQ3 SCN2A TBC1D24
15 benign epilepsy with centrotemporal spikes 9.9 KCNQ2 KCNQ3 SCN2A TBC1D24
16 exanthema subitum 9.8 POLG SCN1A
17 seizures, benign familial infantile, 3 9.7 KCNQ2 KCNQ3 SCN1A SCN2A
18 3-methylglutaconic aciduria, type v 9.7 MT-TK POLG
19 epilepsy, idiopathic generalized 10 9.6 KCNQ3 SCN1A SCN2A TBC1D24
20 epileptic encephalopathy, early infantile, 9 9.6 CDKL5 KCNQ2 SCN1A
21 malignant migrating partial seizures of infancy 9.6 SCN1A SCN2A SLC25A22 TBC1D24
22 generalized epilepsy with febrile seizures plus 9.4 KCNQ2 KCNQ3 SCN1A SCN2A TBC1D24
23 encephalopathy 9.3 CDKL5 SCN1A SLC25A22 STXBP1
24 focal epilepsy 9.2 CDKL5 SCN1A SCN2A TBC1D24
25 seizure disorder 9.0 CDKL5 KCNQ2 SCN1A SCN2A STXBP1
26 early myoclonic encephalopathy 9.0 ARX CDKL5 MT-TK SCN1A SLC25A22
27 lennox-gastaut syndrome 8.9 KCNQ2 SCN1A SNRPE STXBP1 TBC1D24
28 infantile epileptic encephalopathy 8.5 ARX CDKL5 SCN1A SCN2A SLC25A22 STXBP1
29 infancy electroclinical syndrome 8.2 ARX CDKL5 KCNQ2 SCN1A SCN2A STXBP1
30 trehalase deficiency 8.1 ARX CDKL5 KCNQ2 SCN1A SCN2A STXBP1
31 epilepsy 8.1 ARX CDKL5 KCNQ2 KCNQ3 POLG SCN1A
32 epileptic encephalopathy, early infantile, 15 7.8 ARX CDKL5 KCNQ2 KCNQ3 SCN1A SCN2A
33 west syndrome 7.8 ARX CDKL5 KCNQ2 SCN1A SCN2A SLC25A22
34 epilepsy, idiopathic generalized 7.6 ARX CDKL5 KCNQ2 KCNQ3 POLG SCN1A
35 epileptic encephalopathy, early infantile, 6 7.0 CDKL5 KCNQ2 KCNQ3 SCN1A SCN2A SLC25A22

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 9.56 ARX CDKL5 KCNQ2 KCNQ3 KCNV1 SCN1A
2 nervous system MP:0003631 9.28 ARX CDKL5 KCNQ2 KCNQ3 POLG SCN1A

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 11.99 KCNQ2 SCN1A SCN2A STXBP1
2
Show member pathways
11.6 KCNQ2 KCNQ3 KCNV1
3
Show member pathways
11.35 KCNQ2 KCNQ3 SCN1A SCN2A
4 10.4 KCNQ2 KCNQ3 SCN1A SCN2A

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 voltage-gated potassium channel complex GO:0008076 9.5 KCNQ2 KCNQ3 KCNV1
2 terminal bouton GO:0043195 9.43 POLG STXBP1 TBC1D24
3 T-tubule GO:0030315 9.4 SCN1A SCN2A
4 voltage-gated sodium channel complex GO:0001518 9.37 SCN1A SCN2A
5 sodium channel complex GO:0034706 9.16 SCN1A SCN2A
6 axon initial segment GO:0043194 9.13 KCNQ2 KCNQ3 SCN1A
7 node of Ranvier GO:0033268 8.92 KCNQ2 KCNQ3 SCN1A SCN2A

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

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.73 ARX KCNQ2 SCN2A SHOX2
2 ion transport GO:0006811 9.63 KCNQ2 KCNQ3 KCNV1 SCN1A SCN2A SLC25A22
3 potassium ion transport GO:0006813 9.5 KCNQ2 KCNQ3 KCNV1
4 potassium ion transmembrane transport GO:0071805 9.43 KCNQ2 KCNQ3 KCNV1
5 transmembrane transport GO:0055085 9.43 KCNQ2 KCNQ3 KCNV1 SCN1A SCN2A SLC25A22
6 membrane depolarization during action potential GO:0086010 9.4 SCN1A SCN2A
7 neuronal action potential GO:0019228 9.37 SCN1A SCN2A
8 regulation of ion transmembrane transport GO:0034765 9.02 KCNQ2 KCNQ3 KCNV1 SCN1A SCN2A

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

# Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.37 SCN1A SCN2A
2 potassium channel activity GO:0005267 9.33 KCNQ2 KCNQ3 KCNV1
3 delayed rectifier potassium channel activity GO:0005251 9.32 KCNQ2 KCNQ3
4 voltage-gated sodium channel activity GO:0005248 9.26 SCN1A SCN2A
5 voltage-gated potassium channel activity GO:0005249 9.13 KCNQ2 KCNQ3 KCNV1
6 voltage-gated ion channel activity GO:0005244 9.02 KCNQ2 KCNQ3 KCNV1 SCN1A SCN2A

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
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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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