EIEE13
MCID: EPL082
MIFTS: 45

Epileptic Encephalopathy, Early Infantile, 13 (EIEE13)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 13

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 13:

Name: Epileptic Encephalopathy, Early Infantile, 13 56 52 73 13 71
Early Infantile Epileptic Encephalopathy 13 12 29 6 15
Eiee13 56 52 73
Encephalopathy, Epileptic, Early Infantile, Type 13 39
Early Infantile Epileptic Encephalopathy-13 52
Scn8a Encephalopathy 52
Scn8a Epilepsy 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset of seizures before age 2 years


HPO:

31
epileptic encephalopathy, early infantile, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080445
OMIM 56 614558
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
MedGen 41 C3281191
UMLS 71 C3281191

Summaries for Epileptic Encephalopathy, Early Infantile, 13

NIH Rare Diseases : 52 SCN8A encephalopathy is a very rare form of early-onset epilepsy that causes multiple types of seizures and developmental delay or regression (loss of skills). Seizures begin during the first 18 months of life, at an average age of 4 months. Types of seizures may include generalized tonic-clonic seizures , infantile spasms , absence seizures , and focal seizures . Other signs and symptoms of SCN8A encephalopathy may include low muscle tone (hypotonia ), a high pain tolerance, movement disorders (such as dystonia and ataxia ), mild to severe intellectual disability , sleep problems, and autistic-like features . In some people with SCN8A encephalopathy, various other medical problems have been reported including hearing or vision problems, scoliosis , and difficulty regulating body temperature. About 10% of people with SCN8A encephalopathy reported in the literature have died from sudden unexpected death in epilepsy (SUDEP). SCN8A encephalopathy is caused by mutations in the SCN8A gene . Inheritance is autosomal dominant , but most people with SCN8A encephalopathy have a new mutation in the gene that was not inherited from a parent. Treatment aims to control seizures with medications, which is extremely challenging. Seizure control should be managed by a pediatric neurologist with expertise in epilepsy who is familiar with SCN8A encephalopathy.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 13, also known as early infantile epileptic encephalopathy 13, is related to encephalopathy and epileptic encephalopathy, early infantile, 6. An important gene associated with Epileptic Encephalopathy, Early Infantile, 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, eye and bone, and related phenotypes are cerebral atrophy and intellectual disability

Disease Ontology : 12 An early infantile epileptic encephalopathy 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.

More information from OMIM: 614558 PS308350

Related Diseases for Epileptic Encephalopathy, Early Infantile, 13

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 30.5 SLC13A5 SCN1A GNAO1
2 epileptic encephalopathy, early infantile, 6 29.9 SCN8A SCN1B SCN1A
3 visual epilepsy 29.7 SLC13A5 SCN1B SCN1A
4 early infantile epileptic encephalopathy 28.2 SZT2 SLC13A5 SCN8A SCN1B SCN1A GNAO1
5 epilepsy 27.6 SZT2 SCN8A SCN1B SCN1A GNAO1 ABAT
6 scn8a-related epilepsy with encephalopathy 11.6
7 alacrima, achalasia, and mental retardation syndrome 10.3
8 seizure disorder 10.3
9 myoclonic epilepsy of infancy 10.2 SCN8A SCN1A
10 progressive familial heart block, type ia 10.1 SCN8A SCN1A
11 spinocerebellar ataxia 27 10.1 SCN8A SCN1A
12 landau-kleffner syndrome 10.1 SCN8A SCN1A
13 low-grade astrocytoma 10.1 SCN8A SCN1A
14 ataxia and polyneuropathy, adult-onset 10.1
15 status epilepticus 10.1
16 movement disease 10.1
17 dystonia 10.1
18 slc12a5-related epilepsy of infancy with migrating focal seizures 10.1
19 hypotonia 10.1
20 traumatic brain injury 10.1
21 autism 10.1
22 autism spectrum disorder 10.1
23 erythromelalgia 10.0 SCN8A SCN1A
24 paine syndrome 10.0 SCN8A SCN1A
25 scn1a seizure disorders 10.0 SCN1B SCN1A
26 febrile seizures 10.0 SCN1B SCN1A
27 generalized epilepsy with febrile seizures plus, type 1 10.0 SCN1B SCN1A
28 early onset absence epilepsy 9.9 SCN1B SCN1A
29 somatoform disorder 9.9 SCN8A SCN1A
30 epilepsy, nocturnal frontal lobe, 1 9.9 SCN1B SCN1A
31 epilepsy with generalized tonic-clonic seizures 9.9 SCN1B SCN1A
32 episodic ataxia 9.9 SCN8A SCN1A
33 epilepsy, familial temporal lobe, 5 9.9 SCN1B SCN1A
34 adolescence-adult electroclinical syndrome 9.9 SCN1B SCN1A
35 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 9.8 SLC13A5 SCN8A SCN1A
36 benign neonatal seizures 9.8 SCN1B SCN1A
37 epileptic encephalopathy, early infantile, 1 9.8 SZT2 SCN1A GNAO1
38 undetermined early-onset epileptic encephalopathy 9.8 SZT2 SLC13A5 SCN8A
39 infancy electroclinical syndrome 9.7 SCN8A SCN1B SCN1A
40 electroclinical syndrome 9.7 SCN8A SCN1B SCN1A
41 childhood electroclinical syndrome 9.7 SCN8A SCN1B SCN1A
42 neonatal period electroclinical syndrome 9.7 SCN8A SCN1B SCN1A
43 benign familial infantile epilepsy 9.7 SCN8A SCN1B SCN1A
44 lennox-gastaut syndrome 9.7 SCN8A SCN1B SCN1A
45 autosomal dominant nocturnal frontal lobe epilepsy 9.7 SCN8A SCN1B SCN1A
46 generalized epilepsy with febrile seizures plus 9.7 SCN8A SCN1B SCN1A
47 focal epilepsy 9.7 SCN8A SCN1B SCN1A
48 gastroenteritis 9.6 SCN1B SCN1A
49 benign epilepsy with centrotemporal spikes 9.6 SZT2 SCN1B SCN1A
50 brugada syndrome 9.6 SCN8A SCN1B SCN1A

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 13:



Diseases related to Epileptic Encephalopathy, Early Infantile, 13

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 13

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 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 generalized hypotonia 31 HP:0001290
6 autism 31 HP:0000717
7 epileptic encephalopathy 31 HP:0200134
8 epileptic spasms 31 HP:0011097
9 progressive microcephaly 31 HP:0000253

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 13:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 GNAO1 SCN1A SCN1B SCN8A SLC13A5 SZT2

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 13

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 13

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 13

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 13:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 13

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 13:

40
Cortex, Eye, Bone, Brain, Heart, Liver, Temporal Lobe

Publications for Epileptic Encephalopathy, Early Infantile, 13

Articles related to Epileptic Encephalopathy, Early Infantile, 13:

(show all 17)
# Title Authors PMID Year
1
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 61 56 6
25725044 2015
2
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 61 56 6
25239001 2014
3
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 56 6
24888894 2014
4
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 56 6
23708187 2013
5
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 56 6
22365152 2012
6
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 6
27210545 2016
7
SCN8A-Related Epilepsy with Encephalopathy 6
27559564 2016
8
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
9
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
10
The phenotype of SCN8A developmental and epileptic encephalopathy. 61
30171078 2018
11
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. 61
28676574 2017
12
Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy. 61
28193882 2017
13
SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment. 61
27659738 2016
14
Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. 61
27791149 2016
15
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. 61
27375106 2016
16
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 61
26900580 2016
17
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. 61
26029160 2015

Variations for Epileptic Encephalopathy, Early Infantile, 13

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN8A NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)SNV Pathogenic 156106 rs587777721 12:52200120-52200120 12:51806336-51806336
2 SCN8A NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys)SNV Pathogenic 156107 rs587777722 12:52183181-52183181 12:51789397-51789397
3 SCN8A NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr)SNV Pathogenic 156108 rs587777723 12:52183180-52183180 12:51789396-51789396
4 SCN8A NM_001330260.2(SCN8A):c.615-195A>GSNV Pathogenic 162015 rs672601319 12:52082594-52082594 12:51688810-51688810
5 SCN8A NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)SNV Pathogenic 192317 rs876657399 12:52162699-52162699 12:51768915-51768915
6 SCN8A NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val)SNV Pathogenic 207120 rs796053217 12:52184197-52184197 12:51790413-51790413
7 SCN8A NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)SNV Pathogenic 207131 rs796053228 12:52200884-52200884 12:51807100-51807100
8 SCN8A NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)SNV Pathogenic 217880 rs863225295 12:52159585-52159585 12:51765801-51765801
9 SCN8A NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp)SNV Pathogenic 253292 rs879255707 12:52200132-52200132 12:51806348-51806348
10 SCN8A NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg)SNV Pathogenic 253293 rs879255708 12:52200143-52200143 12:51806359-51806359
11 SCN8A NM_001330260.2(SCN8A):c.615-233T>CSNV Pathogenic 253275 rs879255693 12:52082556-52082556 12:51688772-51688772
12 SCN8A NM_001330260.2(SCN8A):c.615-221G>ASNV Pathogenic 253276 rs879255694 12:52082568-52082568 12:51688784-51688784
13 SCN8A NM_001330260.2(SCN8A):c.615-219A>GSNV Pathogenic 253277 rs879255695 12:52082570-52082570 12:51688786-51688786
14 SCN8A NM_001330260.2(SCN8A):c.615-215T>ASNV Pathogenic 253278 rs879255696 12:52082574-52082574 12:51688790-51688790
15 SCN8A NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser)SNV Pathogenic 253279 rs879255697 12:52093426-52093426 12:51699642-51699642
16 SCN8A NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe)SNV Pathogenic 253280 rs879255698 12:52099287-52099287 12:51705503-51705503
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.2537T>C (p.Phe846Ser)SNV Pathogenic 253284 rs879255700 12:52156453-52156453 12:51762669-51762669
19 SCN8A NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln)SNV Pathogenic 253285 rs879255701 12:52159534-52159534 12:51765750-51765750
20 SCN8A NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr)SNV Pathogenic 253286 rs879255702 12:52159578-52159578 12:51765794-51765794
21 SCN8A NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp)SNV Pathogenic 253287 rs879255703 12:52159789-52159789 12:51766005-51766005
22 SCN8A NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys)SNV Pathogenic 253290 rs879255705 12:52188417-52188417 12:51794633-51794633
23 SCN8A NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr)SNV Pathogenic 253294 rs879255709 12:52200218-52200218 12:51806434-51806434
24 SCN8A NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu)SNV Pathogenic 253295 rs879255710 12:52200671-52200671 12:51806887-51806887
25 SCN8A NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp)SNV Pathogenic 253296 rs879255711 12:52200880-52200880 12:51807096-51807096
26 SCN8A NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)SNV Pathogenic 253297 rs796053229 12:52200885-52200885 12:51807101-51807101
27 SCN8A NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile)SNV Pathogenic 253283 rs758253791 12:52139691-52139691 12:51745907-51745907
28 SCN8A NP_055006.1(SCN8A):p.Pro1428_Lys1473delprotein only Pathogenic 253289
29 SCN8A NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val)SNV Pathogenic 253291 rs879255706 12:52200083-52200083 12:51806299-51806299
30 SCN8A NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val)SNV Pathogenic 431135 rs1135401806 12:52183177-52183177 12:51789393-51789393
31 SCN8A NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp)SNV Pathogenic 30123 rs202151337 12:52200572-52200572 12:51806788-51806788
32 SCN8A NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val)SNV Pathogenic 60709 rs397514738 12:52180374-52180374 12:51786590-51786590
33 SCN8A NM_001330260.2(SCN8A):c.3953A>G (p.Asn1318Ser)SNV Pathogenic 694309 12:52180336-52180336 12:51786552-51786552
34 SCN8A NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)SNV Pathogenic/Likely pathogenic 207119 rs796053216 12:52184185-52184185 12:51790401-51790401
35 SCN8A NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)SNV Likely pathogenic 802857 12:52099294-52099294 12:51705510-51705510
36 SCN8A NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)SNV Likely pathogenic 802858 12:52159551-52159551 12:51765767-51765767
37 SCN8A NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)SNV Likely pathogenic 802859 12:52188224-52188224 12:51794440-51794440
38 SCN8A NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)SNV Likely pathogenic 802860 12:52200153-52200153 12:51806369-51806369
39 SCN8A NM_001330260.2(SCN8A):c.615-186A>GSNV Likely pathogenic 689732 12:52082603-52082603 12:51688819-51688819
40 SCN8A NM_001330260.2(SCN8A):c.615-165G>ASNV Likely pathogenic 689734 12:52082624-52082624 12:51688840-51688840
41 SCN8A NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr)SNV Likely pathogenic 436672 rs1555225794 12:52159513-52159513 12:51765729-51765729
42 SCN8A NM_001330260.2(SCN8A):c.615-215T>GSNV Likely pathogenic 374298 rs879255696 12:52082574-52082574 12:51688790-51688790
43 SCN8A NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser)SNV Likely pathogenic 374375 rs1057518667 12:52183186-52183186 12:51789402-51789402
44 SCN8A NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)SNV Likely pathogenic 418482 rs1064793263 12:52184188-52184188 12:51790404-51790404
45 SCN8A NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)SNV Likely pathogenic 420831 rs1064794727 12:52200876-52200876 12:51807092-51807092
46 SCN8A NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)SNV Likely pathogenic 488588 rs1555228771 12:52183192-52183192 12:51789408-51789408
47 SCN8A NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)SNV Likely pathogenic 495260 rs1057524820 12:52159530-52159530 12:51765746-51765746
48 SCN8A NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)SNV Likely pathogenic 521651 rs1555231012 12:52200549-52200549 12:51806765-51806765
49 SCN8A NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)SNV Likely pathogenic 253288 rs879255704 12:52180362-52180362 12:51786578-51786578
50 SCN8A NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu)SNV Likely pathogenic 130249 rs587780454 12:52188404-52188404 12:51794620-51794620

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 13

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 13.

Pathways for Epileptic Encephalopathy, Early Infantile, 13

Pathways related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 SCN8A SCN1B SCN1A GNAO1
2
Show member pathways
12.31 SCN8A SCN1B SCN1A
3
Show member pathways
12.14 SCN8A SCN1B SCN1A
4 11.99 SCN8A SCN1B SCN1A GNAO1
5
Show member pathways
11.53 SCN8A SCN1B SCN1A
6
Show member pathways
11.01 SCN8A SCN1B SCN1A
7 10.28 SCN8A SCN1B SCN1A

GO Terms for Epileptic Encephalopathy, Early Infantile, 13

Cellular components related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.58 SCN8A SCN1B SCN1A
2 intercalated disc GO:0014704 9.37 SCN1B SCN1A
3 T-tubule GO:0030315 9.32 SCN1B SCN1A
4 axon initial segment GO:0043194 9.26 SCN8A SCN1A
5 sodium channel complex GO:0034706 9.16 SCN1B SCN1A
6 voltage-gated sodium channel complex GO:0001518 9.13 SCN8A SCN1B SCN1A
7 node of Ranvier GO:0033268 8.8 SCN8A SCN1B SCN1A

Biological processes related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.71 SLC13A5 SCN8A SCN1B SCN1A
2 locomotory behavior GO:0007626 9.46 GNAO1 ABAT
3 neuronal action potential GO:0019228 9.43 SCN8A SCN1A
4 regulation of ion transmembrane transport GO:0034765 9.43 SCN8A SCN1B SCN1A
5 membrane depolarization during action potential GO:0086010 9.37 SCN8A SCN1A
6 cardiac muscle cell action potential involved in contraction GO:0086002 9.32 SCN1B SCN1A
7 neuronal action potential propagation GO:0019227 9.16 SCN1B SCN1A
8 sodium ion transmembrane transport GO:0035725 9.13 SCN8A SCN1B SCN1A
9 sodium ion transport GO:0006814 8.92 SLC13A5 SCN8A SCN1B SCN1A

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.33 SCN8A SCN1B SCN1A
2 sodium channel activity GO:0005272 9.13 SCN8A SCN1B SCN1A
3 voltage-gated sodium channel activity GO:0005248 8.8 SCN8A SCN1B SCN1A

Sources for Epileptic Encephalopathy, Early Infantile, 13

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
Content
Loading form....