MCID: UND011
MIFTS: 30

Undetermined Early-Onset Epileptic Encephalopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Undetermined Early-Onset Epileptic Encephalopathy

MalaCards integrated aliases for Undetermined Early-Onset Epileptic Encephalopathy:

Name: Undetermined Early-Onset Epileptic Encephalopathy 60 6
Undetermined Eoee 60

Characteristics:

Orphanet epidemiological data:

60
undetermined early-onset epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Undetermined Early-Onset Epileptic Encephalopathy

MalaCards based summary : Undetermined Early-Onset Epileptic Encephalopathy, also known as undetermined eoee, is related to retinitis pigmentosa 49 and episodic ataxia, type 1. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A), and among its related pathways/superpathways are Transmission across Chemical Synapses and Synaptic vesicle cycle. Affiliated tissues include brain and eye, and related phenotypes are encephalopathy and intellectual disability

Related Diseases for Undetermined Early-Onset Epileptic Encephalopathy

Diseases related to Undetermined Early-Onset Epileptic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 49 10.2 ATP6V1A EEF1A2
2 episodic ataxia, type 1 10.1 CACNA1A KCNA2

Symptoms & Phenotypes for Undetermined Early-Onset Epileptic Encephalopathy

Human phenotypes related to Undetermined Early-Onset Epileptic Encephalopathy:

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001298
2 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
3 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
4 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 60 33 frequent (33%) Frequent (79-30%) HP:0000750
7 hyporeflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001265
8 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
9 eeg with multifocal slow activity 60 33 frequent (33%) Frequent (79-30%) HP:0010844
10 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
11 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
12 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
13 spasticity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001257
14 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
15 dyskinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100660
16 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
17 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
18 gastroesophageal reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0002020
19 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
20 myoclonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001336
21 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
22 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
23 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063
24 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
25 mental deterioration 60 33 occasional (7.5%) Occasional (29-5%) HP:0001268
26 hypsarrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002521
27 difficulty walking 60 33 occasional (7.5%) Occasional (29-5%) HP:0002355
28 high forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000348
29 hypodontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000668
30 decreased fetal movement 60 33 occasional (7.5%) Occasional (29-5%) HP:0001558
31 impulsivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0100710
32 abnormal myelination 60 33 occasional (7.5%) Occasional (29-5%) HP:0012447
33 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
34 poor head control 60 33 occasional (7.5%) Occasional (29-5%) HP:0002421
35 unsteady gait 60 33 occasional (7.5%) Occasional (29-5%) HP:0002317
36 abnormal corpus callosum morphology 33 occasional (7.5%) HP:0001273
37 optic atrophy 60 33 very rare (1%) Very rare (<4-1%) HP:0000648
38 abnormality of vision 60 33 very rare (1%) Very rare (<4-1%) HP:0000504
39 status epilepticus 60 33 very rare (1%) Very rare (<4-1%) HP:0002133
40 retinal degeneration 60 33 very rare (1%) Very rare (<4-1%) HP:0000546
41 limb hypertonia 60 33 very rare (1%) Very rare (<4-1%) HP:0002509
42 brain atrophy 60 Occasional (29-5%)
43 seizures 60 Frequent (79-30%)
44 behavioral abnormality 60 Occasional (29-5%)
45 reduced tendon reflexes 60 Occasional (29-5%)
46 involuntary movements 60 Occasional (29-5%)
47 abnormal involuntary eye movements 60 Very rare (<4-1%)
48 abnormality of the corpus callosum 60 Occasional (29-5%)
49 abnormality of coordination 60 Frequent (79-30%)

MGI Mouse Phenotypes related to Undetermined Early-Onset Epileptic Encephalopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 AP3B2 CACNA1A CYFIP2 EEF1A2 FGF12 GABRB2
2 nervous system MP:0003631 9.44 AP3B2 CACNA1A CYFIP2 EEF1A2 FGF12 GABRB2

Drugs & Therapeutics for Undetermined Early-Onset Epileptic Encephalopathy

Search Clinical Trials , NIH Clinical Center for Undetermined Early-Onset Epileptic Encephalopathy

Genetic Tests for Undetermined Early-Onset Epileptic Encephalopathy

Anatomical Context for Undetermined Early-Onset Epileptic Encephalopathy

MalaCards organs/tissues related to Undetermined Early-Onset Epileptic Encephalopathy:

42
Brain, Eye

Publications for Undetermined Early-Onset Epileptic Encephalopathy

Variations for Undetermined Early-Onset Epileptic Encephalopathy

ClinVar genetic disease variations for Undetermined Early-Onset Epileptic Encephalopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SRGAP2 NC_000001.10: g.(?_206516175)_(206567055_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 206516175: 206567055
2 SRGAP2 NC_000001.10: g.(?_206579711)_(206634815_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 206579711: 206634815
3 RBFOX1 NC_000016.10: g.(?_6316970)_(6317082_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 6366971: 6367083
4 RBFOX1 NC_000016.10: g.(?_6316970)_(6317082_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 6316970: 6317082
5 RBFOX1 NC_000016.10: g.(?_6654578)_(6654675_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 6654578: 6654675
6 RBFOX1 NC_000016.10: g.(?_6654578)_(6654675_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 6704579: 6704676

Expression for Undetermined Early-Onset Epileptic Encephalopathy

Search GEO for disease gene expression data for Undetermined Early-Onset Epileptic Encephalopathy.

Pathways for Undetermined Early-Onset Epileptic Encephalopathy

Pathways related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 CACNA1A GABRB2 GRIN2D HCN1 KCNA2 SLC1A2
2
Show member pathways
11.45 ATP6V1A CACNA1A CLTC
3 10.4 CACNA1A GABRB2 GRIN2D

GO Terms for Undetermined Early-Onset Epileptic Encephalopathy

Cellular components related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.55 CACNA1A HCN1 KCNA2 NTRK2 TRAK1
2 axon GO:0030424 9.35 HCN1 KCNA2 NTRK2 SCN3A SLC1A2
3 synapse GO:0045202 9.1 CYFIP2 EEF1A2 GABRB2 GRIN2D KCNA2 YWHAG
4 membrane GO:0016020 10.13 AP3B2 CACNA1A CLTC CNKSR2 CYFIP2 GABRB2

Biological processes related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.77 CACNA1A HCN1 KCNA2 SCN3A SLC1A2
2 negative regulation of neuron apoptotic process GO:0043524 9.63 CACNA1A GABRB2 NTRK2
3 ion transmembrane transport GO:0034220 9.62 ATP6V1A CACNA1A GABRB2 SCN3A
4 regulation of membrane potential GO:0042391 9.61 CACNA1A GABRB2 HCN1
5 chemical synaptic transmission GO:0007268 9.56 CACNA1A FGF12 GABRB2 SLC1A2
6 gamma-aminobutyric acid signaling pathway GO:0007214 9.48 CACNA1A GABRB2
7 regulation of ion transmembrane transport GO:0034765 9.46 CACNA1A HCN1 KCNA2 SCN3A
8 glutamate secretion GO:0014047 9.4 NTRK2 SLC1A2
9 ion transport GO:0006811 9.23 ATP6V1A CACNA1A GABRB2 GRIN2D HCN1 KCNA2
10 neuromuscular process GO:0050905 9.13 CACNA1A FGF12 UBA5

Molecular functions related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.26 CACNA1A HCN1 KCNA2 SCN3A
2 voltage-gated sodium channel activity GO:0005248 9.16 HCN1 SCN3A
3 ion channel activity GO:0005216 9.02 CACNA1A GABRB2 GRIN2D HCN1 SCN3A
4 protein binding GO:0005515 10.16 CACNA1A CLTC CNKSR2 CYFIP2 EEF1A2 FGF12

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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