MCID: NNT041
MIFTS: 25

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 Transmission across Chemical Synapses. Affiliated tissues include heart and temporal lobe, and 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 top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 benign neonatal seizures 31.5 STXBP1 SLC25A22 SCN8A SCN2A SCN1B SCN1A
2 early infantile epileptic encephalopathy 30.6 TBC1D24 STXBP1 SLC25A22 SCN8A SCN3A SCN2A
3 kcnq2-related disorders 10.5 KCNQ3 KCNQ2
4 genetic epilepsy with febrile seizures plus 10.5 SCN2A SCN1A
5 stxbp1 encephalopathy 10.4 STXBP1 CDKL5
6 myoclonic epilepsy of infancy 10.4 SCN8A SCN1A GABRG2
7 seizures, benign familial infantile, 3 10.4 SCN2A KCNQ2
8 reflex epilepsy 10.4 SCN2A SCN1A GABRG2
9 febrile infection-related epilepsy syndrome 10.4 SCN1A POLG PCDH19
10 hereditary episodic ataxia 10.4 SCN2A KCNA1
11 verbal auditory agnosia 10.4 SCN1B GABRG2
12 febrile seizures, familial, 6 10.4 SCN1B SCN1A GABRG2
13 seizures, benign familial neonatal, 2 10.4 KCNQ3 KCNQ2
14 seizures, benign familial infantile, 5 10.4 SCN8A KCNQ3
15 epilepsy, familial temporal lobe, 5 10.4 SCN1B SCN1A GABRG2
16 febrile seizures, familial, 8 10.4 SCN1B SCN1A GABRG2
17 febrile seizures, familial, 4 10.4 SCN1B SCN1A GABRG2
18 central nervous system origin vertigo 10.4 SCN2A POLG
19 developmental and epileptic encephalopathy 7 10.4 KCNT1 KCNQ3 KCNQ2
20 generalized epilepsy with febrile seizures plus, type 2 10.4 SCN1B SCN1A GABRG2
21 plagiocephaly 10.4 SCN1A POLG
22 hyperkalemic periodic paralysis 10.4 SCN8A SCN2A SCN1A
23 progressive familial heart block, type ia 10.4 SCN8A SCN3A SCN1A
24 convulsions benign familial neonatal dominant form 10.4 KCNQ3 KCNQ2
25 sturge-weber syndrome 10.4 SCN1A GABRG2 CDKL5
26 trigeminal neuralgia 10.4 SCN8A SCN3A SCN1A
27 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 10.4 TBC1D24 SCN2A
28 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.4 KCNQ3 KCNQ2
29 autonomic nervous system disease 10.4 SCN8A SCN3A SCN1A
30 developmental and epileptic encephalopathy 13 10.4 SCN8A SCN2A SCN1B SCN1A
31 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.4 SCN1A POLG CDKL5
32 episodic ataxia, type 1 10.4 KCNQ3 KCNQ2 KCNA1
33 febrile seizures, familial, 5 10.4 SCN2A SCN1B SCN1A GABRG2
34 somatoform disorder 10.4 SCN8A SCN3A SCN1A
35 paramyotonia congenita of von eulenburg 10.4 SCN8A SCN2A SCN1B SCN1A
36 paroxysmal dyskinesia 10.4 SCN8A PCDH19
37 paine syndrome 10.4 SCN8A SCN3A SCN1A
38 chromosome 16p11.2 deletion syndrome 10.4 PCDH19 EPRS1
39 generalized epilepsy with febrile seizures plus, type 7 10.4 SCN8A SCN1B SCN1A GABRG2
40 low-grade astrocytoma 10.4 SCN8A SCN3A SCN2A SCN1A
41 episodic kinesigenic dyskinesia 1 10.4 KCNQ2 KCNA1 GABRA1
42 trigeminal nerve disease 10.4 SCN8A SCN3A SCN2A SCN1A
43 erythromelalgia 10.4 SCN8A SCN3A SCN2A SCN1A
44 specific developmental disorder 10.4 SCN1A PCDH19 EPRS1 CDKL5
45 febrile seizures, familial, 11 10.4 SCN1A GABRG2
46 status epilepticus 10.3 SCN1A POLG PCDH19 KCNQ2
47 generalized epilepsy with febrile seizures plus, type 1 10.3 SCN1B SCN1A
48 migraine, familial hemiplegic, 3 10.3 SCN3A SCN2A SCN1A KCNA1
49 juvenile absence epilepsy 10.3 SCN1A GABRG2 GABRB3 GABRA1
50 febrile seizures, familial, 2 10.3 SCN2A SCN1B SCN1A KCNQ3 GABRG2

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 10.31 CDKL5 GABRA1 GABRB3 GABRG2 KCNA1 KCNQ2
2 growth/size/body region MP:0005378 10.24 EPRS1 GABRA1 GABRB3 GABRG2 KCNA1 KCNQ2
3 mortality/aging MP:0010768 10.16 EPRS1 GABRA1 GABRB3 GABRG2 KCNA1 KCNQ2
4 nervous system MP:0003631 10.09 CDKL5 GABRA1 GABRB3 GABRG2 KCNA1 KCNQ2
5 hearing/vestibular/ear MP:0005377 9.8 GABRA1 GABRB3 KCNA1 POLG SCN8A TBC1D24
6 no phenotypic analysis MP:0003012 9.5 CDKL5 GABRA1 GABRB3 POLG SCN1B SCN3A
7 normal MP:0002873 9.23 EPRS1 GABRA1 GABRB3 GABRG2 KCNT1 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

MalaCards organs/tissues related to Neonatal Period Electroclinical Syndrome:

40
Heart, Temporal Lobe

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ3
2
Show member pathways
12.8 STXBP1 KCNQ3 KCNQ2 KCNA1 GABRG2 GABRB3
3
Show member pathways
12.62 SCN8A SCN3A SCN2A SCN1B SCN1A
4
Show member pathways
12.46 SCN8A SCN3A SCN2A SCN1B SCN1A
5
Show member pathways
12.44 SCN8A SCN3A SCN2A SCN1B SCN1A KCNT1
6 12.27 STXBP1 SCN8A SCN2A SCN1B SCN1A KCNQ2
7
Show member pathways
11.8 SCN3A SCN2A GABRA1
8
Show member pathways
11.6 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ3
9
Show member pathways
11.43 SCN8A SCN3A SCN2A SCN1B SCN1A
10
Show member pathways
11.26 GABRG2 GABRB3 GABRA1
11 11.21 GABRG2 GABRB3 GABRA1
12
Show member pathways
10.77 GABRG2 GABRA1
13 10.73 GABRG2 GABRB3 GABRA1
14 10.64 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ3

GO Terms for Neonatal Period Electroclinical Syndrome

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.36 SLC25A22 SCN8A SCN3A SCN2A SCN1B SCN1A
2 membrane GO:0016020 10.35 TBC1D24 STXBP1 SLC25A22 SCN8A SCN3A SCN2A
3 plasma membrane GO:0005886 10.25 TBC1D24 STXBP1 SCN8A SCN3A SCN2A SCN1B
4 integral component of plasma membrane GO:0005887 10.1 SCN2A SCN1B PCDH19 PCDH10 KCNQ3 KCNQ2
5 cell projection GO:0042995 10.08 TBC1D24 SCN8A SCN1B KCNA1 GABRG2 CDKL5
6 synapse GO:0045202 10.08 TBC1D24 KCNQ3 KCNQ2 KCNA1 GABRG2 GABRB3
7 cell junction GO:0030054 10.06 TBC1D24 SCN8A KCNA1 GABRG2 GABRB3 GABRA1
8 cytoplasmic vesicle GO:0031410 10.03 TBC1D24 SCN8A KCNA1 GABRG2 GABRB3 GABRA1
9 glutamatergic synapse GO:0098978 9.89 STXBP1 SCN2A KCNA1 CDKL5
10 cytoplasmic vesicle membrane GO:0030659 9.85 TBC1D24 GABRG2 GABRB3 GABRA1
11 axon GO:0030424 9.76 STXBP1 SCN8A SCN3A SCN2A SCN1B SCN1A
12 voltage-gated potassium channel complex GO:0008076 9.74 KCNQ3 KCNQ2 KCNA1
13 chloride channel complex GO:0034707 9.71 GABRG2 GABRB3 GABRA1
14 intercalated disc GO:0014704 9.7 SCN2A SCN1B SCN1A
15 T-tubule GO:0030315 9.69 SCN2A SCN1B SCN1A
16 GABA-A receptor complex GO:1902711 9.67 GABRG2 GABRB3 GABRA1
17 sodium channel complex GO:0034706 9.61 SCN2A SCN1B SCN1A
18 paranode region of axon GO:0033270 9.58 SCN2A KCNA1
19 axon initial segment GO:0043194 9.56 SCN8A SCN1A KCNQ3 KCNQ2
20 voltage-gated sodium channel complex GO:0001518 9.35 SCN8A SCN3A SCN2A SCN1B SCN1A
21 node of Ranvier GO:0033268 9.1 SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.97 SLC25A22 SCN8A SCN3A SCN2A SCN1A KCNQ3
2 chemical synaptic transmission GO:0007268 9.93 KCNQ3 KCNQ2 KCNA1 GABRG2 GABRB3 GABRA1
3 sodium ion transport GO:0006814 9.89 SCN8A SCN3A SCN2A SCN1B SCN1A
4 potassium ion transport GO:0006813 9.86 KCNT1 KCNQ3 KCNQ2 KCNA1
5 potassium ion transmembrane transport GO:0071805 9.85 KCNT1 KCNQ3 KCNQ2 KCNA1
6 cation transmembrane transport GO:0098655 9.83 SCN8A SCN3A SCN2A SCN1A
7 regulation of membrane potential GO:0042391 9.83 SCN1A KCNA1 GABRG2 GABRB3 GABRA1
8 sodium ion transmembrane transport GO:0035725 9.8 SCN8A SCN3A SCN2A SCN1B SCN1A
9 chloride transmembrane transport GO:1902476 9.78 GABRG2 GABRB3 GABRA1
10 chloride transport GO:0006821 9.77 GABRG2 GABRB3 GABRA1
11 regulation of ion transmembrane transport GO:0034765 9.76 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ3
12 nervous system process GO:0050877 9.75 GABRG2 GABRB3 GABRA1
13 regulation of postsynaptic membrane potential GO:0060078 9.74 KCNA1 GABRG2 GABRA1
14 gamma-aminobutyric acid signaling pathway GO:0007214 9.71 GABRG2 GABRB3 GABRA1
15 inhibitory synapse assembly GO:1904862 9.69 GABRG2 GABRB3 GABRA1
16 cellular response to histamine GO:0071420 9.65 GABRG2 GABRB3 GABRA1
17 neuronal action potential GO:0019228 9.65 SCN8A SCN3A SCN2A SCN1A KCNA1
18 ion transmembrane transport GO:0034220 9.65 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ3
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.62 SCN1B SCN1A
20 membrane depolarization during action potential GO:0086010 9.62 SCN8A SCN3A SCN2A SCN1A
21 synaptic transmission, GABAergic GO:0051932 9.61 GABRG2 GABRA1
22 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.6 SCN1A KCNA1
23 neuronal action potential propagation GO:0019227 9.58 SCN1B SCN1A
24 ion transport GO:0006811 9.44 SLC25A22 SCN8A SCN3A SCN2A SCN1B SCN1A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.73 KCNT1 KCNQ3 KCNQ2 KCNA1
2 neurotransmitter receptor activity GO:0030594 9.72 GABRG2 GABRB3 GABRA1
3 chloride channel activity GO:0005254 9.69 GABRG2 GABRB3 GABRA1
4 voltage-gated potassium channel activity GO:0005249 9.67 KCNQ3 KCNQ2 KCNA1
5 extracellular ligand-gated ion channel activity GO:0005230 9.65 GABRG2 GABRB3 GABRA1
6 sodium channel activity GO:0005272 9.65 SCN8A SCN3A SCN2A SCN1B SCN1A
7 delayed rectifier potassium channel activity GO:0005251 9.63 KCNQ3 KCNQ2 KCNA1
8 cation channel activity GO:0005261 9.62 SCN8A SCN3A SCN2A SCN1A
9 GABA-A receptor activity GO:0004890 9.58 GABRG2 GABRB3 GABRA1
10 voltage-gated ion channel activity GO:0005244 9.56 SCN8A SCN3A SCN2A SCN1B SCN1A KCNQ3
11 voltage-gated sodium channel activity GO:0005248 9.55 SCN8A SCN3A SCN2A SCN1B SCN1A
12 benzodiazepine receptor activity GO:0008503 9.54 GABRG2 GABRA1
13 GABA-gated chloride ion channel activity GO:0022851 9.54 GABRG2 GABRB3 GABRA1
14 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.52 GABRG2 GABRA1
15 ion channel activity GO:0005216 9.32 SCN8A SCN3A SCN2A SCN1A KCNQ3 KCNQ2

Sources for Neonatal Period Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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