MCID: UND011
MIFTS: 47

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 petroclival meningioma and developmental and epileptic encephalopathy 26. 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 Transmission across Chemical Synapses and Potassium Channels. Affiliated tissues include eye, brain and retina, 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:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 petroclival meningioma 10.4 SCN8A HCN1
2 developmental and epileptic encephalopathy 26 10.4 KCNB1 KCNA2
3 benign neonatal seizures 10.4 SCN8A KCNB1 KCNA2
4 episodic ataxia, type 1 10.4 KCNB1 KCNA2 CACNA1A
5 cerebellar ataxia type 42 10.3 CACNA1B CACNA1A
6 neonatal period electroclinical syndrome 10.3 SCN8A KCNB1 KCNA2 CACNA1A
7 kohlschutter-tonz syndrome 10.3 SLC13A5 CNKSR2
8 lennox-gastaut syndrome 10.3 SCN8A KCNB1 CACNA1A
9 generalized epilepsy with febrile seizures plus 10.3 SCN8A KCNA2 HCN1 CACNA1A
10 episodic ataxia 10.3 SCN8A KCNA2 CACNA1B CACNA1A
11 epilepsy, idiopathic generalized 10.3 SCN8A KCNA2 HCN1 CACNA1A
12 fleck retina, familial benign 10.3 CACNA1B CACNA1A
13 early myoclonic encephalopathy 10.3 SCN8A KCNA2 CACNA1A
14 encephalopathy 10.3 SLC13A5 SCN8A NECAP1 CACNA1A AP3B2
15 dravet syndrome 10.3 SCN8A KCNB1 KCNA2 HCN1 CACNA1A
16 paroxysmal extreme pain disorder 10.3 SCN8A KCNB1 KCNA2 CACNA1B CACNA1A
17 retinitis pigmentosa 71 10.3 SCN8A DHDDS
18 autosomal dominant non-syndromic intellectual disability 10.2 SCN8A EEF1A2 CLTC ACTL6B
19 trigeminal nerve disease 10.2 SCN8A CACNA1B
20 seizure disorder 10.2 WWOX SLC13A5 SCN8A KCNA2 CYFIP2 AP3B2
21 west syndrome 10.2 WWOX SCN8A KCNB1 KCNA2 CYFIP2 CACNA1A
22 infancy electroclinical syndrome 10.2 SCN8A CACNA1A
23 developmental and epileptic encephalopathy 10.1 SCN8A KCNB1 HCN1 CYFIP2 CDK19 ACTL6B
24 epilepsy 10.1 WWOX SCN8A KCNB1 HCN1 EEF1A2 CACNA1A
25 early infantile epileptic encephalopathy 10.1 WWOX SLC13A5 SCN8A NECAP1 KCNB1 KCNA2
26 cataract 8, multiple types 10.1 NECAP1 CLTC
27 alacrima, achalasia, and mental retardation syndrome 10.0 WWOX KCNB1 KCNA2 EEF1A2 CYFIP2 CNKSR2
28 disease of mental health 9.8 WWOX SCN8A KCNB1 KCNA2 EEF1A2 CYFIP2

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 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
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 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
11 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
12 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
13 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
14 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
15 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
18 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
19 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
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 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
23 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
24 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
25 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
26 mental deterioration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001268
27 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
28 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
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 seizures 58 Frequent (79-30%)
43 behavioral abnormality 58 Occasional (29-5%)
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 9.77 CACNA1B
2 Decreased viability GR00221-A-2 9.77 CDK19
3 Decreased viability GR00221-A-3 9.77 CDK19
4 Decreased viability GR00221-A-4 9.77 CDK19
5 Decreased viability GR00249-S 9.77 CACNA1A CDK19 KCNB1 SLC13A5
6 Decreased viability GR00381-A-1 9.77 CACNA1B
7 Decreased viability GR00386-A-1 9.77 ATP6V1A CDK19
8 Decreased viability GR00402-S-2 9.77 ATP6V1A CYFIP2
9 Increased the percentage of infected cells GR00402-S-1 8.32 KCNA2

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 AARS1 ACTL6B AP3B2 CACNA1A CACNA1B CDK19
2 nervous system MP:0003631 9.4 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, Retina

Publications for Undetermined Early-Onset Epileptic Encephalopathy

Articles related to Undetermined Early-Onset Epileptic Encephalopathy:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Whole genome sequencing of 45 Japanese patients with intellectual disability. 6
33624935 2021
2
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
3
Genotype-phenotype correlation on 45 individuals with West syndrome. 6
31791873 2020
4
The landscape of early infantile epileptic encephalopathy in a consanguineous population. 6
31054490 2019
5
Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews. 6
30853297 2019
6
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. 6
30626896 2019
7
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy. 6
30525121 2018
8
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 6
30351409 2018
9
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay. 6
29808465 2018
10
Monogenic disorders that mimic the phenotype of Rett syndrome. 6
29322350 2018
11
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 6
29264397 2017
12
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 6
27457812 2017
13
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. 6
28806457 2017
14
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 6
28252636 2017
15
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 6
28911200 2017
16
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. 6
28673551 2017
17
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. 6
28378778 2017
18
Novel KCNB1 mutation associated with non-syndromic intellectual disability. 6
27928161 2017
19
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. 6
27062609 2017
20
Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations. 6
27913086 2017
21
Prevalence and architecture of de novo mutations in developmental disorders. 6
28135719 2017
22
[A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature]. 6
28173649 2017
23
De novo KCNA2 mutations cause hereditary spastic paraplegia. 6
28032718 2017
24
Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency. 6
26960556 2017
25
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. 6
27600704 2017
26
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 6
27733563 2016
27
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 6
27543892 2016
28
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 6
27210545 2016
29
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
30
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 6
27441201 2016
31
Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. 6
26682508 2016
32
Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay. 6
27261973 2016
33
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
34
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
35
Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 6
26297079 2016
36
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. 6
26384929 2015
37
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 6
26477325 2015
38
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 6
25914188 2015
39
Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. 6
25951352 2015
40
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 6
26235738 2015
41
In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 6
26235739 2015
42
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 6
25046240 2015
43
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 6
25818041 2015
44
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. 6
25950944 2015
45
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 6
25725044 2015
46
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
47
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 6
25751627 2015
48
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. 6
24697219 2015
49
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 6
25817015 2015
50
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 6
25785782 2015

Variations for Undetermined Early-Onset Epileptic Encephalopathy

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

6 (show top 50) (show all 871)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HCN1 NM_021072.4(HCN1):c.1201G>C (p.Asp401His) SNV Pathogenic 139571 rs587777491 GRCh37: 5:45396623-45396623
GRCh38: 5:45396521-45396521
2 HCN1 NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) SNV Pathogenic 139574 rs587777494 GRCh37: 5:45462069-45462069
GRCh38: 5:45461967-45461967
3 HCN1 NM_021072.4(HCN1):c.835C>T (p.His279Tyr) SNV Pathogenic 139575 rs587777495 GRCh37: 5:45645301-45645301
GRCh38: 5:45645199-45645199
4 KCNB1 NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) SNV Pathogenic 156533 rs587777848 GRCh37: 20:47991056-47991056
GRCh38: 20:49374519-49374519
5 KCNB1 NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) SNV Pathogenic 156535 rs587777850 GRCh37: 20:47990962-47990962
GRCh38: 20:49374425-49374425
6 WWOX NM_016373.3(WWOX):c.-366-?_516+?del Deletion Pathogenic 180246 GRCh37: 16:78133327-78198186
GRCh38: 16:78099413-78164289
7 WWOX NM_016373.3(WWOX):c.517-?_605+?del Deletion Pathogenic 180247 GRCh37: 16:78420757-78420845
GRCh38: 16:78342602-78424602
8 WWOX and overlap with 1 gene(s) NM_016373.2(WWOX):c.517-?_605+?del Deletion Pathogenic 180248 GRCh37: 16:78260521-78417344
GRCh38: 16:78226624-78383447
9 WWOX NM_016373.4(WWOX):c.46_49del (p.Asp16fs) Deletion Pathogenic 180250 rs730880291 GRCh37: 16:78133720-78133723
GRCh38: 16:78099823-78099826
10 SCN8A NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val) SNV Pathogenic 253291 rs879255706 GRCh37: 12:52200083-52200083
GRCh38: 12:51806299-51806299
11 SCN8A NP_055006.1(SCN8A):p.Pro1428_Lys1473del protein only Pathogenic 253289 GRCh37:
GRCh38:
12 SCN8A NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val) SNV Pathogenic 431135 rs1135401806 GRCh37: 12:52183177-52183177
GRCh38: 12:51789393-51789393
13 SCN8A NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) SNV Pathogenic 60709 rs397514738 GRCh37: 12:52180374-52180374
GRCh38: 12:51786590-51786590
14 WWOX NM_016373.4(WWOX):c.160C>T (p.Arg54Ter) SNV Pathogenic 120325 rs587777248 GRCh37: 16:78142372-78142372
GRCh38: 16:78108475-78108475
15 KCNB1 NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) SNV Pathogenic 576946 rs1569017114 GRCh37: 20:47990955-47990955
GRCh38: 20:49374418-49374418
16 WWOX GRCh37/hg19 16q23.1(chr16:78143268-78154701) copy number loss Pathogenic 625675 GRCh37: 16:78143268-78154701
GRCh38:
17 WWOX GRCh37/hg19 16q23.1(chr16:78409180-78431277) copy number loss Pathogenic 625676 GRCh37: 16:78409180-78431277
GRCh38:
18 WWOX GRCh37/hg19 16q23.1(chr16:78458774-78463512) copy number loss Pathogenic 625820 GRCh37: 16:78458774-78463512
GRCh38:
19 HCN1 NM_021072.4(HCN1):c.459G>C (p.Met153Ile) SNV Pathogenic 375530 rs1057519548 GRCh37: 5:45645677-45645677
GRCh38: 5:45645575-45645575
20 KCNA2 NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) SNV Pathogenic 666316 rs1570752696 GRCh37: 1:111146182-111146182
GRCh38: 1:110603560-110603560
21 WWOX NM_016373.4(WWOX):c.107+1G>A SNV Pathogenic 689796 rs1300924648 GRCh37: 16:78133783-78133783
GRCh38: 16:78099886-78099886
22 SCN8A NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) SNV Pathogenic 694309 rs1592162430 GRCh37: 12:52180336-52180336
GRCh38: 12:51786552-51786552
23 SCN8A NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro) SNV Pathogenic 813773 GRCh37: 12:52200864-52200864
GRCh38: 12:51807080-51807080
24 KCNB1 NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) SNV Pathogenic 828102 rs1601070652 GRCh37: 20:47990569-47990569
GRCh38: 20:49374032-49374032
25 KCNA2 NC_000001.11:g.(?_110593873)_(110604802_?)del Deletion Pathogenic 830850 GRCh37: 1:111136495-111147424
GRCh38:
26 KCNB1 NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) SNV Pathogenic 916589 GRCh37: 20:47990988-47990988
GRCh38: 20:49374451-49374451
27 NECAP1 NM_015509.4(NECAP1):c.301+1G>A SNV Pathogenic 929499 GRCh37: 12:8242896-8242896
GRCh38: 12:8090300-8090300
28 WWOX GRCh37/hg19 16q23.1(chr16:78458767-78458953) copy number loss Pathogenic 915975 GRCh37: 16:78458767-78458953
GRCh38:
29 SCN8A NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) Indel Pathogenic 870200 GRCh37: 12:52184205-52184206
GRCh38: 12:51790421-51790422
30 WWOX NM_016373.4(WWOX):c.184G>T (p.Gly62Ter) SNV Pathogenic 976436 GRCh37: 16:78143686-78143686
GRCh38: 16:78109789-78109789
31 WWOX Deletion Pathogenic 978033 GRCh37:
GRCh38: 16:78152047-78188346
32 AARS1 NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) SNV Pathogenic 807355 rs758183257 GRCh37: 16:70302257-70302257
GRCh38: 16:70268354-70268354
33 HCN1 NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) SNV Pathogenic 139572 rs587777492 GRCh37: 5:45695897-45695897
GRCh38: 5:45695795-45695795
34 HCN1 NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) SNV Pathogenic 139573 rs587777493 GRCh37: 5:45645322-45645322
GRCh38: 5:45645220-45645220
35 KCNB1 NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) SNV Pathogenic 156534 rs587777849 GRCh37: 20:47990976-47990976
GRCh38: 20:49374439-49374439
36 AARS1 NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) SNV Pathogenic 190102 rs786205157 GRCh37: 16:70310960-70310960
GRCh38: 16:70277057-70277057
37 KCNA2 NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) SNV Pathogenic 190325 GRCh37: 1:111146191-111146191
GRCh38: 1:110603569-110603569
38 KCNA2 NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) SNV Pathogenic 190327 rs876657390 GRCh37: 1:111146511-111146511
GRCh38: 1:110603889-110603889
39 KCNA2 NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala) SNV Pathogenic 559647 rs1553181280 GRCh37: 1:111146285-111146285
GRCh38: 1:110603663-110603663
40 KCNA2 NM_004974.4(KCNA2):c.881G>A (p.Arg294His) SNV Pathogenic 280584 rs886041761 GRCh37: 1:111146524-111146524
GRCh38: 1:110603902-110603902
41 KCNB1 NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg) SNV Pathogenic 475255 GRCh37: 20:47991056-47991056
GRCh38: 20:49374519-49374519
42 KCNB1 NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) SNV Pathogenic 633624 rs1569017205 GRCh37: 20:47991052-47991052
GRCh38: 20:49374515-49374515
43 KCNB1 NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val) SNV Pathogenic 1031489 GRCh37: 20:47990961-47990961
GRCh38: 20:49374424-49374424
44 WWOX NM_016373.4(WWOX):c.730C>T (p.Gln244Ter) SNV Pathogenic 1033412 GRCh37: 16:78458891-78458891
GRCh38: 16:78424994-78424994
45 AARS1 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) SNV Pathogenic 190103 rs143370729 GRCh37: 16:70289666-70289666
GRCh38: 16:70255763-70255763
46 SCN8A NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) SNV Pathogenic 208500 rs797045013 GRCh37: 12:52145307-52145307
GRCh38: 12:51751523-51751523
47 SLC13A5 NM_177550.4(SLC13A5):c.1207_1217dup (p.Pro407fs) Duplication Pathogenic 218172 rs863225447 GRCh37: 17:6596420-6596421
GRCh38: 17:6693101-6693102
48 SLC13A5 NM_177550.4(SLC13A5):c.1280C>T (p.Ser427Leu) SNV Pathogenic 218170 rs548065551 GRCh37: 17:6594255-6594255
GRCh38: 17:6690936-6690936
49 SLC13A5 NM_177550.4(SLC13A5):c.1022G>A (p.Trp341Ter) SNV Pathogenic 218171 rs150203483 GRCh37: 17:6599078-6599078
GRCh38: 17:6695759-6695759
50 SLC13A5 NM_001143838.3(SLC13A5):c.1438-1196G>C SNV Pathogenic 218174 rs863225448 GRCh37: 17:6590853-6590853
GRCh38: 17:6687534-6687534

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

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 plasma membrane GO:0005886 9.73 WWOX SLC13A5 SCN8A NECAP1 KCNB1 KCNA2
2 synapse GO:0045202 9.1 KCNB1 KCNA2 EEF1A2 CYFIP2 CACNA1B CACNA1A

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 9.7 SLC13A5 SCN8A KCNB1 KCNA2 HCN1 CACNA1B
2 potassium ion transport GO:0006813 9.65 KCNB1 KCNA2 HCN1
3 ion transmembrane transport GO:0034220 9.65 SCN8A KCNB1 KCNA2 CACNA1A ATP6V1A
4 potassium ion transmembrane transport GO:0071805 9.63 KCNB1 KCNA2 HCN1
5 sodium ion transport GO:0006814 9.58 SLC13A5 SCN8A HCN1
6 ion transport GO:0006811 9.56 SLC13A5 SCN8A KCNB1 KCNA2 HCN1 CACNA1B
7 calcium ion import GO:0070509 9.43 CACNA1B CACNA1A
8 membrane depolarization GO:0051899 9.37 CACNA1B CACNA1A
9 response to amyloid-beta GO:1904645 9.32 CACNA1B CACNA1A
10 regulation of ion transmembrane transport GO:0034765 9.1 SCN8A KCNB1 KCNA2 HCN1 CACNA1B CACNA1A

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.97 SCN8A HCN1 EEF1A2 DALRD3 CDK19 CACNA1B
2 potassium channel activity GO:0005267 9.58 KCNB1 KCNA2 HCN1
3 voltage-gated sodium channel activity GO:0005248 9.43 SCN8A HCN1
4 voltage-gated potassium channel activity GO:0005249 9.43 KCNB1 KCNA2 HCN1
5 ion channel activity GO:0005216 9.43 SCN8A KCNB1 KCNA2 HCN1 CACNA1B CACNA1A
6 cation channel activity GO:0005261 9.33 SCN8A CACNA1B CACNA1A
7 high voltage-gated calcium channel activity GO:0008331 9.32 CACNA1B CACNA1A
8 voltage-gated ion channel activity GO:0005244 9.1 SCN8A KCNB1 KCNA2 HCN1 CACNA1B CACNA1A

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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
37 LifeMap
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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