DEE13
MCID: DVL041
MIFTS: 42

Developmental and Epileptic Encephalopathy 13 (DEE13)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 13

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 13:

Name: Developmental and Epileptic Encephalopathy 13 57 12
Early Infantile Epileptic Encephalopathy 13 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 13 57 73 13
Eiee13 57 73
Dee13 57 12
Epileptic Encephalopathy, Early Infantile, 13; Eiee13 57
Encephalopathy, Epileptic, Early Infantile, Type 13 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of seizures before age 2 years


HPO:

31
developmental and epileptic encephalopathy 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080445
OMIM® 57 614558
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
MedGen 41 C3281191

Summaries for Developmental and Epileptic Encephalopathy 13

OMIM® : 57 Developmental and epileptic encephalopathy-13 (DEE13) is a neurologic disorder characterized by the onset of intractable seizures in the first year of life. Some patients may present with seizures in the first days, whereas others present later (between 2 and 7 months of age) after normal or only mild developmental delay. Affected individuals have profoundly impaired development or developmental regression after the onset of seizures, and show severe intellectual disability, poor or absent language, hypotonia, and are usually unable to walk. EEG shows variable abnormalities, including multifocal and generalized spike-wave discharges, sometimes with status epilepticus or hypsarrhythmia. Brain imaging may show cerebral atrophy (summary by Ohba et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (614558) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 13, also known as early infantile epileptic encephalopathy 13, is related to scn8a encephalopathy and scn8a-related epilepsy with encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 13 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are G-Beta Gamma Signaling and Cardiac conduction. Affiliated tissues include cortex, and related phenotypes are cerebral atrophy and intellectual disability

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has material basis in heterozygous mutation in the SCN8A gene on chromosome 12q13.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 13: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy.

Related Diseases for Developmental and Epileptic Encephalopathy 13

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 scn8a encephalopathy 11.6
2 scn8a-related epilepsy with encephalopathy 11.4
3 myoclonic epilepsy of infancy 10.1 SCN8A SCN1A
4 progressive familial heart block, type ia 10.1 SCN8A SCN1A
5 trigeminal neuralgia 10.1 SCN8A SCN1A
6 autonomic nervous system disease 10.1 SCN8A SCN1A
7 febrile seizures, familial, 6 10.1 SCN1B SCN1A
8 epilepsy, familial temporal lobe, 5 10.0 SCN1B SCN1A
9 generalized epilepsy with febrile seizures plus, type 2 10.0 SCN1B SCN1A
10 generalized epilepsy with febrile seizures plus, type 1 10.0 SCN1B SCN1A
11 febrile seizures, familial, 8 10.0 SCN1B SCN1A
12 febrile seizures, familial, 4 10.0 SCN1B SCN1A
13 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1B SCN1A
14 somatoform disorder 10.0 SCN8A SCN1A
15 paine syndrome 10.0 SCN8A SCN1A
16 long qt syndrome 3 10.0 SCN1B SCN1A
17 genetic epilepsy with febrile seizures plus 9.9 SCN2A SCN1A
18 coffin-siris syndrome 4 9.9 SCN8A SCN2A
19 reflex epilepsy 9.9 SCN2A SCN1A
20 generalized epilepsy with febrile seizures plus, type 7 9.9 SCN8A SCN1B SCN1A
21 unverricht-lundborg syndrome 9.9 SCN1B SCN1A
22 landau-kleffner syndrome 9.8 SCN2A SCN1A
23 migraine, familial hemiplegic, 3 9.8 SCN2A SCN1A
24 malignant migrating partial seizures of infancy 9.8 SCN2A SCN1A
25 encephalopathy 9.8 SCN8A SCN2A SCN1A
26 long qt syndrome 9.7 SCN8A SCN1B SCN1A
27 partial motor epilepsy 9.7 SCN8A SCN2A SCN1A
28 developmental and epileptic encephalopathy 14 9.7 SCN8A SCN2A SCN1A
29 low-grade astrocytoma 9.7 SCN8A SCN2A SCN1A
30 trigeminal nerve disease 9.7 SCN8A SCN2A SCN1A
31 hyperkalemic periodic paralysis 9.7 SCN8A SCN2A SCN1A
32 erythromelalgia 9.7 SCN8A SCN2A SCN1A
33 episodic ataxia 9.7 SCN8A SCN2A SCN1A
34 focal epilepsy 9.7 SCN8A SCN2A SCN1A
35 febrile seizures, familial, 5 9.7 SCN2A SCN1B SCN1A
36 febrile seizures, familial, 2 9.7 SCN2A SCN1B SCN1A
37 early onset absence epilepsy 9.6 SCN2A SCN1B SCN1A
38 febrile seizures, familial, 1 9.6 SCN2A SCN1B SCN1A
39 epilepsy with generalized tonic-clonic seizures 9.6 SCN2A SCN1B SCN1A
40 adolescence-adult electroclinical syndrome 9.6 SCN2A SCN1B SCN1A
41 photosensitive epilepsy 9.6 SCN2A SCN1B SCN1A
42 familial febrile seizures 9.6 SCN2A SCN1B SCN1A
43 migraine with or without aura 1 9.6 SCN8A SCN2A SCN1A
44 epilepsy, myoclonic juvenile 9.6 SCN2A SCN1B SCN1A
45 infancy electroclinical syndrome 9.5 SCN8A SCN2A SCN1B SCN1A
46 electroclinical syndrome 9.5 SCN8A SCN2A SCN1B SCN1A
47 benign neonatal seizures 9.5 SCN8A SCN2A SCN1B SCN1A
48 childhood electroclinical syndrome 9.5 SCN8A SCN2A SCN1B SCN1A
49 benign familial neonatal epilepsy 9.5 SCN8A SCN2A SCN1B SCN1A
50 neonatal period electroclinical syndrome 9.5 SCN8A SCN2A SCN1B SCN1A

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 13:



Diseases related to Developmental and Epileptic Encephalopathy 13

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 13

Human phenotypes related to Developmental and Epileptic Encephalopathy 13:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 31 occasional (7.5%) HP:0002059
2 intellectual disability 31 HP:0001249
3 developmental regression 31 HP:0002376
4 global developmental delay 31 HP:0001263
5 autism 31 HP:0000717
6 generalized hypotonia 31 HP:0001290
7 epileptic encephalopathy 31 HP:0200134
8 progressive microcephaly 31 HP:0000253
9 epileptic spasm 31 HP:0011097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
epileptic spasms
seizures, refractory
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autism

Head And Neck Head:
microcephaly, progressive (in some patients)

Clinical features from OMIM®:

614558 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 13

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 13

Genetic Tests for Developmental and Epileptic Encephalopathy 13

Genetic tests related to Developmental and Epileptic Encephalopathy 13:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 13 29 SCN8A

Anatomical Context for Developmental and Epileptic Encephalopathy 13

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 13:

40
Cortex

Publications for Developmental and Epileptic Encephalopathy 13

Articles related to Developmental and Epileptic Encephalopathy 13:

# Title Authors PMID Year
1
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 57 6
25725044 2015
2
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 57 6
25239001 2014
3
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 6 57
24888894 2014
4
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6 57
23708187 2013
5
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 57 6
22365152 2012
6
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 6
27210545 2016
7
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. 61
28676574 2017

Variations for Developmental and Epileptic Encephalopathy 13

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 13:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN8A NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val) SNV Pathogenic 253291 rs879255706 12:52200083-52200083 12:51806299-51806299
2 SCN8A NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile) SNV Pathogenic 253283 rs758253791 12:52139691-52139691 12:51745907-51745907
3 SCN8A NP_055006.1(SCN8A):p.Pro1428_Lys1473del protein only Pathogenic 253289
4 SCN8A NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val) SNV Pathogenic 431135 rs1135401806 12:52183177-52183177 12:51789393-51789393
5 SCN8A NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser) SNV Pathogenic 694309 rs1592162430 12:52180336-52180336 12:51786552-51786552
6 SCN8A NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) SNV Pathogenic 60709 rs397514738 12:52180374-52180374 12:51786590-51786590
7 SCN8A NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro) SNV Pathogenic 813773 12:52200864-52200864 12:51807080-51807080
8 SCN8A NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) Indel Pathogenic 870200 12:52184205-52184206 12:51790421-51790422
9 SCN8A NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) SNV Pathogenic 208500 rs797045013 12:52145307-52145307 12:51751523-51751523
10 SCN8A NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) SNV Pathogenic 30123 rs202151337 12:52200572-52200572 12:51806788-51806788
11 SCN8A NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) SNV Pathogenic 156106 rs587777721 12:52200120-52200120 12:51806336-51806336
12 SCN8A NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys) SNV Pathogenic 156107 rs587777722 12:52183181-52183181 12:51789397-51789397
13 SCN8A NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr) SNV Pathogenic 156108 rs587777723 12:52183180-52183180 12:51789396-51789396
14 SCN8A NM_001330260.2(SCN8A):c.615-195A>G SNV Pathogenic 162015 rs672601319 12:52082594-52082594 12:51688810-51688810
15 SCN8A NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) SNV Pathogenic 192317 rs876657399 12:52162699-52162699 12:51768915-51768915
16 SCN8A NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) SNV Pathogenic 192318 rs863223345 12:52183134-52183134 12:51789350-51789350
17 SCN8A NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu) SNV Pathogenic 253281 rs879255699 12:52099294-52099294 12:51705510-51705510
18 SCN8A NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) SNV Pathogenic 207131 rs796053228 12:52200884-52200884 12:51807100-51807100
19 SCN8A NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) SNV Pathogenic 253284 rs879255700 12:52156453-52156453 12:51762669-51762669
20 SCN8A NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp) SNV Pathogenic 253292 rs879255707 12:52200132-52200132 12:51806348-51806348
21 SCN8A NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr) SNV Pathogenic 253286 rs879255702 12:52159578-52159578 12:51765794-51765794
22 SCN8A NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val) SNV Pathogenic 207120 rs796053217 12:52184197-52184197 12:51790413-51790413
23 SCN8A NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser) SNV Pathogenic 253279 rs879255697 12:52093426-52093426 12:51699642-51699642
24 SCN8A NM_001330260.2(SCN8A):c.615-219A>G SNV Pathogenic 253277 rs879255695 12:52082570-52082570 12:51688786-51688786
25 SCN8A NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg) SNV Pathogenic 253293 rs879255708 12:52200143-52200143 12:51806359-51806359
26 SCN8A NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp) SNV Pathogenic 253282 rs761336234 12:52100452-52100452 12:51706668-51706668
27 SCN8A NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) SNV Pathogenic 253297 rs796053229 12:52200885-52200885 12:51807101-51807101
28 SCN8A NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu) SNV Pathogenic 253295 rs879255710 12:52200671-52200671 12:51806887-51806887
29 SCN8A NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp) SNV Pathogenic 253287 rs879255703 12:52159789-52159789 12:51766005-51766005
30 SCN8A NM_001330260.2(SCN8A):c.615-233T>C SNV Pathogenic 253275 rs879255693 12:52082556-52082556 12:51688772-51688772
31 SCN8A NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) SNV Pathogenic 253288 rs879255704 12:52180362-52180362 12:51786578-51786578
32 SCN8A NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe) SNV Pathogenic 253280 rs879255698 12:52099287-52099287 12:51705503-51705503
33 SCN8A NM_001330260.2(SCN8A):c.615-215T>A SNV Pathogenic 253278 rs879255696 12:52082574-52082574 12:51688790-51688790
34 SCN8A NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr) SNV Pathogenic 253294 rs879255709 12:52200218-52200218 12:51806434-51806434
35 SCN8A NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp) SNV Pathogenic 253296 rs879255711 12:52200880-52200880 12:51807096-51807096
36 SCN8A NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln) SNV Pathogenic 253285 rs879255701 12:52159534-52159534 12:51765750-51765750
37 SCN8A NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) SNV Pathogenic 253290 rs879255705 12:52188417-52188417 12:51794633-51794633
38 SCN8A NM_001330260.2(SCN8A):c.615-221G>A SNV Pathogenic 253276 rs879255694 12:52082568-52082568 12:51688784-51688784
39 SCN8A NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) SNV Pathogenic 135651 12:52159459-52159459 12:51765675-51765675
40 SCN8A NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) SNV Likely pathogenic 130252 rs587780455 12:52200900-52200900 12:51807116-51807116
41 SCN8A NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) SNV Likely pathogenic 130249 rs587780454 12:52188404-52188404 12:51794620-51794620
42 SCN8A NM_001330260.2(SCN8A):c.615-186A>G SNV Likely pathogenic 689732 rs1592380687 12:52082603-52082603 12:51688819-51688819
43 SCN8A NM_001330260.2(SCN8A):c.615-165G>A SNV Likely pathogenic 689734 rs1592380699 12:52082624-52082624 12:51688840-51688840
44 SCN8A NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) SNV Likely pathogenic 208500 rs797045013 12:52145307-52145307 12:51751523-51751523
45 SCN8A NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) SNV Likely pathogenic 195688 rs794727361 12:52180350-52180350 12:51786566-51786566
46 SCN8A NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu) SNV Likely pathogenic 976197 12:52200120-52200120 12:51806336-51806336
47 SCN8A NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly) SNV Likely pathogenic 973303 12:52200603-52200603 12:51806819-51806819
48 SCN8A NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro) SNV Likely pathogenic 975769 12:52159543-52159543 12:51765759-51765759
49 SCN8A NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser) SNV Likely pathogenic 393169 rs1057524820 12:52159530-52159530 12:51765746-51765746
50 SCN8A NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe) SNV Likely pathogenic 982943 12:52156434-52156434 12:51762650-51762650

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 13:

73 (show all 25)
# Symbol AA change Variation ID SNP ID
1 SCN8A p.Asn1768Asp VAR_067539 rs202151337
2 SCN8A p.Val216Asp VAR_071674 rs879255696
3 SCN8A p.Phe846Ser VAR_071675 rs879255700
4 SCN8A p.Ile1327Val VAR_071676 rs879255704
5 SCN8A p.Asn1466Lys VAR_071677 rs587777722
6 SCN8A p.Asn1466Thr VAR_071678 rs587777723
7 SCN8A p.Arg1617Gln VAR_071679 rs587777721
8 SCN8A p.Ala1650Thr VAR_071680 rs879255709
9 SCN8A p.Arg1872Trp VAR_071681 rs796053228
10 SCN8A p.Arg223Gly VAR_072182 rs672601319
11 SCN8A p.Thr767Ile VAR_072183 rs797045013
12 SCN8A p.Ala890Thr VAR_076605 rs879255702
13 SCN8A p.Asn984Lys VAR_076607 rs876657399
14 SCN8A p.Gly1451Ser VAR_076609 rs863223345
15 SCN8A p.Arg1872Leu VAR_076615 rs796053229
16 SCN8A p.Arg1872Gln VAR_076616 rs796053229
17 SCN8A p.Asn1877Ser VAR_076617 rs587780455
18 SCN8A p.Ser978Gly VAR_078203 rs105751954
19 SCN8A p.Gly1475Arg VAR_078204 rs796053216
20 SCN8A p.Leu1279Val VAR_078613
21 SCN8A p.Phe210Leu VAR_078752
22 SCN8A p.Ser232Pro VAR_079722
23 SCN8A p.Arg850Glu VAR_079723
24 SCN8A p.Val891Met VAR_079724
25 SCN8A p.Val1598Ala VAR_079725

Expression for Developmental and Epileptic Encephalopathy 13

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 13.

Pathways for Developmental and Epileptic Encephalopathy 13

Pathways related to Developmental and Epileptic Encephalopathy 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 SCN8A SCN2A SCN1B SCN1A
2
Show member pathways
12.4 SCN8A SCN2A SCN1B SCN1A
3
Show member pathways
12.21 SCN8A SCN2A SCN1B SCN1A
4 12.09 SCN8A SCN2A SCN1B SCN1A
5
Show member pathways
11.55 SCN8A SCN2A SCN1B SCN1A
6
Show member pathways
11.13 SCN8A SCN2A SCN1B SCN1A
7 10.4 SCN8A SCN2A SCN1B SCN1A

GO Terms for Developmental and Epileptic Encephalopathy 13

Cellular components related to Developmental and Epileptic Encephalopathy 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.67 SCN8A SCN2A SCN1B SCN1A
2 intercalated disc GO:0014704 9.5 SCN2A SCN1B SCN1A
3 T-tubule GO:0030315 9.43 SCN2A SCN1B SCN1A
4 axon initial segment GO:0043194 9.4 SCN8A SCN1A
5 sodium channel complex GO:0034706 9.33 SCN2A SCN1B SCN1A
6 voltage-gated sodium channel complex GO:0001518 9.26 SCN8A SCN2A SCN1B SCN1A
7 node of Ranvier GO:0033268 8.92 SCN8A SCN2A SCN1B SCN1A

Biological processes related to Developmental and Epileptic Encephalopathy 13 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.78 SCN8A SCN2A SCN1B SCN1A
2 ion transmembrane transport GO:0034220 9.67 SCN8A SCN2A SCN1B SCN1A
3 regulation of ion transmembrane transport GO:0034765 9.62 SCN8A SCN2A SCN1B SCN1A
4 cation transmembrane transport GO:0098655 9.58 SCN8A SCN2A SCN1A
5 myelination GO:0042552 9.49 SCN8A SCN2A
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.46 SCN1B SCN1A
7 sodium ion transport GO:0006814 9.46 SCN8A SCN2A SCN1B SCN1A
8 neuronal action potential propagation GO:0019227 9.43 SCN1B SCN1A
9 neuronal action potential GO:0019228 9.43 SCN8A SCN2A SCN1A
10 sodium ion transmembrane transport GO:0035725 9.26 SCN8A SCN2A SCN1B SCN1A
11 membrane depolarization during action potential GO:0086010 8.8 SCN8A SCN2A SCN1A

Molecular functions related to Developmental and Epileptic Encephalopathy 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 SCN8A SCN2A SCN1A
2 voltage-gated ion channel activity GO:0005244 9.46 SCN8A SCN2A SCN1B SCN1A
3 cation channel activity GO:0005261 9.43 SCN8A SCN2A SCN1A
4 sodium channel activity GO:0005272 9.26 SCN8A SCN2A SCN1B SCN1A
5 voltage-gated sodium channel activity GO:0005248 8.92 SCN8A SCN2A SCN1B SCN1A

Sources for Developmental and Epileptic Encephalopathy 13

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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