MCID: UND011
MIFTS: 41

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 58 29 6
Undetermined Eoee 58

Characteristics:

Orphanet epidemiological data:

58
undetermined early-onset epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
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 cerebellar ataxia type 42 and migraine with aura. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is SLC13A5 (Solute Carrier Family 13 Member 5), and among its related pathways/superpathways are Sweet Taste Signaling and Transmission across Chemical Synapses. Affiliated tissues include eye and brain, and related phenotypes are encephalopathy and intellectual disability

Related Diseases for Undetermined Early-Onset Epileptic Encephalopathy

Graphical network of the top 20 diseases related to Undetermined Early-Onset Epileptic Encephalopathy:



Diseases related to Undetermined Early-Onset Epileptic Encephalopathy

Symptoms & Phenotypes for Undetermined Early-Onset Epileptic Encephalopathy

Human phenotypes related to Undetermined Early-Onset Epileptic Encephalopathy:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
5 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
6 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
7 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
8 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
9 eeg with multifocal slow activity 58 31 frequent (33%) Frequent (79-30%) HP:0010844
10 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
11 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
12 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
13 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
14 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
15 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
16 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
17 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
18 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
19 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
20 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
21 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
22 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
23 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
24 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
25 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
26 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
27 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
28 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
29 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
30 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
31 unsteady gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002317
32 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
33 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
34 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
35 abnormal corpus callosum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001273
36 abnormal myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012447
37 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
38 abnormality of vision 58 31 very rare (1%) Very rare (<4-1%) HP:0000504
39 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
40 retinal degeneration 58 31 very rare (1%) Very rare (<4-1%) HP:0000546
41 limb hypertonia 58 31 very rare (1%) Very rare (<4-1%) HP:0002509
42 behavioral abnormality 58 Occasional (29-5%)
43 seizures 58 Frequent (79-30%)
44 reduced tendon reflexes 58 Occasional (29-5%)
45 involuntary movements 58 Occasional (29-5%)
46 brain atrophy 58 Occasional (29-5%)
47 abnormal involuntary eye movements 58 Very rare (<4-1%)
48 abnormality of coordination 58 Frequent (79-30%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.53 CACNA1B
2 Decreased viability GR00221-A-1 9.53 GABRA2
3 Decreased viability GR00221-A-2 9.53 GABRA2
4 Decreased viability GR00221-A-3 9.53 GABRA5
5 Decreased viability GR00221-A-4 9.53 GABRA2
6 Decreased viability GR00249-S 9.53 CACNA1A GABRA5 GABRB2 GRIN2D SLC13A5
7 Decreased viability GR00381-A-1 9.53 CACNA1B
8 Decreased viability GR00386-A-1 9.53 ATP6V1A GABRB2
9 Decreased viability GR00402-S-2 9.53 ATP6V1A CYFIP2 GABRB2

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.09 AARS1 ACTL6B AP3B2 CACNA1A CACNA1B CNKSR2
2 integument MP:0010771 9.56 AARS1 AP3B2 CACNA1A CACNA1B FGF12 GABRA2
3 nervous system MP:0003631 9.5 AARS1 ACTL6B AP3B2 CACNA1A CACNA1B CYFIP2

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

Genetic tests related to Undetermined Early-Onset Epileptic Encephalopathy:

# Genetic test Affiliating Genes
1 Undetermined Early-Onset Epileptic Encephalopathy 29

Anatomical Context for Undetermined Early-Onset Epileptic Encephalopathy

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

40
Eye, Brain

Publications for Undetermined Early-Onset Epileptic Encephalopathy

Articles related to Undetermined Early-Onset Epileptic Encephalopathy:

(show all 22)
# Title Authors PMID Year
1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 6
30351409 2018
2
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. 6
27600704 2017
3
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 6
27210545 2016
4
SCN8A-Related Epilepsy with Encephalopathy 6
27559564 2016
5
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. 6
26384929 2015
6
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 6
25725044 2015
7
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 6
25751627 2015
8
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 6
25817015 2015
9
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 6
25477152 2015
10
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. 6
25411445 2015
11
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 6
25239001 2014
12
Clinical whole exome sequencing in child neurology practice. 6
25131622 2014
13
De novo KCNB1 mutations in epileptic encephalopathy. 6
25164438 2014
14
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 6
24888894 2014
15
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life. 6
24995870 2014
16
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 6
24747641 2014
17
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. 6
24399846 2014
18
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 6
24456803 2014
19
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6
23647072 2013
20
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013
21
Diagnostic exome sequencing in persons with severe intellectual disability. 6
23033978 2012
22
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 6
22365152 2012

Variations for Undetermined Early-Onset Epileptic Encephalopathy

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SRGAP2 NC_000001.10:g.(?_206516175)_(206567055_?)dupduplication Likely pathogenic 495283 1:206516175-206567055
2 SRGAP2 NC_000001.10:g.(?_206579711)_(206634815_?)dupduplication Likely pathogenic 495282 1:206579711-206634815
3 RBFOX1 NC_000016.10:g.(?_6316970)_(6317082_?)deldeletion Likely pathogenic 495280 16:6366971-6367083 16:6316970-6317082
4 RBFOX1 NC_000016.10:g.(?_6654578)_(6654675_?)deldeletion Likely pathogenic 495281 16:6704579-6704676 16:6654578-6654675
5 SLC13A5 NM_177550.4(SLC13A5):c.680C>T (p.Thr227Met)SNV Conflicting interpretations of pathogenicity 140753 rs587777577 17:6606325-6606325 17:6703006-6703006

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:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 HCN1 GABRG2 GABRB2 GABRA5 GABRA2 CACNA1B
2
Show member pathways
12.61 HCN1 GRIN2D GABRG2 GABRB2 GABRA5 GABRA2
3
Show member pathways
12.36 GABRG2 GABRB2 GABRA5 GABRA2 CACNA1B CACNA1A
4
Show member pathways
12.33 GABRG2 GABRB2 GABRA5 GABRA2 ATP6V1A
5
Show member pathways
12.22 GABRG2 GABRB2 GABRA5 GABRA2
6
Show member pathways
11.89 GABRG2 GABRB2 GABRA5 GABRA2
7
Show member pathways
11.83 DNM1 CLTC CACNA1B CACNA1A ATP6V1A
8
Show member pathways
11.8 GABRA5 GABRA2 CACNA1A
9 11.76 GABRB2 CACNA1B CACNA1A
10
Show member pathways
11.18 GABRG2 GABRB2 GABRA5 GABRA2
11 10.91 CACNA1B CACNA1A
12
Show member pathways
10.77 GABRG2 GABRB2
13 10.77 GRIN2D GABRG2 GABRB2 GABRA5 GABRA2 CACNA1B
14 10.56 CACNA1B CACNA1A
15 10.49 GABRG2 GABRB2 GABRA5 GABRA2

GO Terms for Undetermined Early-Onset Epileptic Encephalopathy

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.45 SLC13A5 HCN1 GRIN2D GABRG2 GABRB2 GABRA5
2 plasma membrane GO:0005886 10.35 SLC13A5 HCN1 GRIN2D GABRG2 GABRB2 GABRA5
3 cell junction GO:0030054 10.05 GRIN2D GABRG2 GABRB2 GABRA5 GABRA2 CYFIP2
4 cytoplasmic vesicle GO:0031410 10.04 GABRG2 GABRB2 GABRA2 DNM1 CLTC AP3B2
5 neuronal cell body GO:0043025 9.92 GABRA2 EEF1A2 CNKSR2 CACNA1B CACNA1A
6 dendrite GO:0030425 9.88 HCN1 GABRG2 GABRA5 GABRA2 CACNA1B CACNA1A
7 neuron projection GO:0043005 9.85 GABRG2 GABRB2 GABRA5 GABRA2 CYFIP2 CNKSR2
8 cytoplasmic vesicle membrane GO:0030659 9.8 GABRG2 GABRB2 GABRA2 CLTC
9 postsynapse GO:0098794 9.76 GABRG2 GABRA5 GABRA2
10 dendrite membrane GO:0032590 9.65 GABRG2 GABRA5 GABRA2
11 membrane coat GO:0030117 9.63 DNM1 CLTC AP3B2
12 GABA-ergic synapse GO:0098982 9.62 GABRG2 GABRB2 GABRA5 GABRA2
13 integral component of postsynaptic specialization membrane GO:0099060 9.61 GABRB2 GABRA5 GABRA2
14 photoreceptor ribbon synapse GO:0098684 9.56 DNM1 CLTC
15 chloride channel complex GO:0034707 9.56 GABRG2 GABRB2 GABRA5 GABRA2
16 presynaptic endocytic zone membrane GO:0098835 9.51 DNM1 CLTC
17 postsynaptic membrane GO:0045211 9.5 GRIN2D GABRG2 GABRB2 GABRA5 GABRA2 DNM1
18 GABA-A receptor complex GO:1902711 9.46 GABRG2 GABRB2 GABRA5 GABRA2
19 synapse GO:0045202 9.36 GRIN2D GABRG2 GABRB2 GABRA5 GABRA2 FGF12

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.91 GABRG2 GABRB2 GABRA5 GABRA2 FGF12 CACNA1B
2 ion transmembrane transport GO:0034220 9.88 GABRG2 GABRB2 GABRA5 GABRA2 CACNA1A ATP6V1A
3 negative regulation of neuron apoptotic process GO:0043524 9.85 GABRB2 GABRA5 CACNA1A AARS1
4 chloride transmembrane transport GO:1902476 9.83 GABRG2 GABRB2 GABRA5 GABRA2
5 modulation of chemical synaptic transmission GO:0050804 9.81 GRIN2D DNM1 CACNA1B CACNA1A
6 chloride transport GO:0006821 9.8 GABRG2 GABRB2 GABRA5 GABRA2
7 regulation of postsynaptic membrane potential GO:0060078 9.73 GABRG2 GABRB2 GABRA5 GABRA2
8 nervous system process GO:0050877 9.72 GABRG2 GABRB2 GABRA5 GABRA2 CACNA1A
9 neuromuscular process GO:0050905 9.71 FGF12 CACNA1A AARS1
10 response to amyloid-beta GO:1904645 9.65 DNM1 CACNA1B CACNA1A
11 inhibitory synapse assembly GO:1904862 9.63 GABRG2 GABRB2 GABRA2
12 regulation of membrane potential GO:0042391 9.63 HCN1 GABRG2 GABRB2 GABRA5 GABRA2 CACNA1A
13 regulation of neuron apoptotic process GO:0043523 9.62 GABRB2 GABRA5
14 calcium ion import GO:0070509 9.61 CACNA1B CACNA1A
15 membrane depolarization GO:0051899 9.61 CACNA1B CACNA1A
16 innervation GO:0060384 9.6 GABRB2 GABRA5
17 response to pain GO:0048265 9.59 CACNA1B CACNA1A
18 cerebellar Purkinje cell layer development GO:0021680 9.58 CACNA1A AARS1
19 inner ear receptor cell development GO:0060119 9.58 GABRB2 GABRA5
20 cellular response to histamine GO:0071420 9.57 GABRG2 GABRB2
21 regulation of neurotransmitter levels GO:0001505 9.56 GABRA2 CACNA1A
22 synaptic transmission, GABAergic GO:0051932 9.56 GABRG2 GABRB2 GABRA5 GABRA2
23 gamma-aminobutyric acid signaling pathway GO:0007214 9.35 GABRG2 GABRB2 GABRA5 GABRA2 CACNA1A
24 ion transport GO:0006811 9.32 SLC13A5 HCN1 GRIN2D GABRG2 GABRB2 GABRA5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.8 GABRG2 GABRB2 GABRA5 GABRA2
2 neurotransmitter receptor activity GO:0030594 9.76 GABRG2 GABRB2 GABRA5 GABRA2
3 chloride channel activity GO:0005254 9.73 GABRG2 GABRB2 GABRA5 GABRA2
4 extracellular ligand-gated ion channel activity GO:0005230 9.67 GABRG2 GABRB2 GABRA5 GABRA2
5 GABA-A receptor activity GO:0004890 9.62 GABRG2 GABRB2 GABRA5 GABRA2
6 benzodiazepine receptor activity GO:0008503 9.58 GABRG2 GABRA5 GABRA2
7 GABA-gated chloride ion channel activity GO:0022851 9.56 GABRG2 GABRB2 GABRA5 GABRA2
8 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.55 GRIN2D GABRG2 GABRB2 GABRA5 GABRA2
9 high voltage-gated calcium channel activity GO:0008331 9.48 CACNA1B CACNA1A
10 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.26 GABRG2 GABRB2 GABRA5 GABRA2
11 ion channel activity GO:0005216 9.23 HCN1 GRIN2D GABRG2 GABRB2 GABRA5 GABRA2

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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