DEE11
MCID: DVL039
MIFTS: 40

Developmental and Epileptic Encephalopathy 11 (DEE11)

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 11

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 11:

Name: Developmental and Epileptic Encephalopathy 11 57 12
Early Infantile Epileptic Encephalopathy 11 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 11 57 73 13
Eiee11 57 73
Dee11 57 12
Epileptic Encephalopathy, Early Infantile, 11; Eiee11 57
Encephalopathy, Epileptic, Early Infantile, Type 11 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
highly variable severity
onset in later childhood (up to 3 or 4 years) has been reported
seizures are refractory
seizures may remit or decrease later in childhood


HPO:

31
developmental and epileptic encephalopathy 11:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080421
OMIM® 57 613721
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
MedGen 41 C3150987

Summaries for Developmental and Epileptic Encephalopathy 11

OMIM® : 57 Developmental and epileptic encephalopathy-11 (DEE11) is a neurologic disorder characterized by onset of seizures in the first days, weeks, or months of life. Some patients may have later onset. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. However, some patients with onset of seizures before 3 months of age may respond to sodium channel blockers, particularly phenytoin. About half of patients become seizure-free in childhood. Affected individuals have global developmental delay, usually with severely impaired intellectual development, although some may be less severely affected and show autism spectrum disorder. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and choreoathetotic movements. Brain imaging may show white matter defects. The phenotype is highly variable, even in patients with the same mutation (summary by Ogiwara et al., 2009; Howell et al., 2015; Wolff et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (613721) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 11, also known as early infantile epileptic encephalopathy 11, is related to cold-induced sweating syndrome including crisponi syndrome and episodic ataxia. An important gene associated with Developmental and Epileptic Encephalopathy 11 is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways is Interleukin-6 family signaling. Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and spastic tetraplegia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has material basis in heterozygous mutation in the SCN2A gene on chromosome 2q24.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 11: An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.

Related Diseases for Developmental and Epileptic Encephalopathy 11

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 11 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cold-induced sweating syndrome including crisponi syndrome 10.0 CRLF1 CLCF1
2 episodic ataxia 9.8 SCN2A NALCN
3 coffin-siris syndrome 1 9.7 SCN2A KLHL7 CRLF1
4 crisponi/cold-induced sweating syndrome 2 9.7 CRLF1 CNTFR CLCF1
5 distal arthrogryposis 9.6 NALCN MAGEL2 KLHL7
6 crisponi/cold-induced sweating syndrome 1 9.4 KLHL7 CRLF1 CNTFR CLCF1
7 schaaf-yang syndrome 9.3 NALCN MAGEL2 KLHL7 CRLF1 CLCF1
8 cold-induced sweating syndrome 9.0 NALCN MAGEL2 KLHL7 CRLF1 CNTFR CLCF1

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 11:



Diseases related to Developmental and Epileptic Encephalopathy 11

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 11

Human phenotypes related to Developmental and Epileptic Encephalopathy 11:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 spastic tetraplegia 31 HP:0002510
3 status epilepticus 31 HP:0002133
4 epileptic encephalopathy 31 HP:0200134
5 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
dyskinesia
dystonia
status epilepticus
choreoathetosis
cerebral atrophy
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypies

Head And Neck Eyes:
poor eye contact
optic atrophy (in some patients)
oculogyric crises

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

613721 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 11

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 11

Genetic Tests for Developmental and Epileptic Encephalopathy 11

Genetic tests related to Developmental and Epileptic Encephalopathy 11:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 11 29 SCN2A

Anatomical Context for Developmental and Epileptic Encephalopathy 11

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 11:

40
Brain, Eye

Publications for Developmental and Epileptic Encephalopathy 11

Articles related to Developmental and Epileptic Encephalopathy 11:

(show all 18)
# Title Authors PMID Year
1
Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy. 6 57
29844171 2018
2
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 57 6
28379373 2017
3
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6 57
26993267 2016
4
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 6 57
26291284 2015
5
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. 6 57
23550958 2013
6
De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 57 6
19786696 2009
7
A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. 6 57
15028761 2004
8
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. 6
30165711 2018
9
SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers. 6
28065826 2017
10
Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val. 6
27159988 2016
11
Exome Sequencing and the Management of Neurometabolic Disorders. 57
27276562 2016
12
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 6
26645390 2016
13
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. 57
24710820 2014
14
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. 57
24579881 2014
15
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 6
20956790 2010
16
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 6
15048894 2004
17
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts. 61
31497877 2020
18
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. 61
30859550 2019

Variations for Developmental and Epileptic Encephalopathy 11

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 11:

6 (show top 50) (show all 455)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A):c.4419A>G (p.Ile1473Met) SNV Pathogenic 29887 rs387906685 2:166237212-166237212 2:165380702-165380702
2 SCN2A NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) SNV Pathogenic 224077 rs869312663 2:166237624-166237624 2:165381114-165381114
3 SCN2A NM_001040142.2(SCN2A):c.1154del (p.Phe385fs) Deletion Pathogenic 242977 rs879253767 2:166170248-166170248 2:165313738-165313738
4 SCN2A NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) SNV Pathogenic 410984 rs1060503101 2:166245292-166245292 2:165388782-165388782
5 SCN2A NM_001040142.2(SCN2A):c.4876C>T (p.Arg1626Ter) SNV Pathogenic 410985 rs1060503102 2:166245192-166245192 2:165388682-165388682
6 SCN2A NM_001040142.2(SCN2A):c.1198dup (p.Thr400fs) Duplication Pathogenic 410976 rs1553568927 2:166170429-166170430 2:165313919-165313920
7 SCN2A NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) SNV Pathogenic 436662 rs1553579225 2:166201068-166201068 2:165344558-165344558
8 SCN2A NM_001040142.2(SCN2A):c.11C>G (p.Ser4Ter) SNV Pathogenic 436659 rs1553564144 2:166152344-166152344 2:165295834-165295834
9 SCN2A NM_001040142.2(SCN2A):c.1342C>T (p.Gln448Ter) SNV Pathogenic 464901 rs1553569054 2:166170577-166170577 2:165314067-165314067
10 SCN2A NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) SNV Pathogenic 464912 rs1553463119 2:166243470-166243470 2:165386960-165386960
11 SCN2A NM_001040142.2(SCN2A):c.1147C>G (p.Gln383Glu) SNV Pathogenic 207050 rs796053178 2:166170242-166170242 2:165313732-165313732
12 SCN2A NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val) SNV Pathogenic 375508 rs1057519526 2:166201189-166201189 2:165344679-165344679
13 SCN2A NM_001040142.2(SCN2A):c.882del (p.Phe295fs) Deletion Pathogenic 496673 rs1553568045 2:166167016-166167016 2:165310506-165310506
14 SCN2A NM_001040142.2(SCN2A):c.4879G>A (p.Val1627Met) SNV Pathogenic 207018 rs796053156 2:166245195-166245195 2:165388685-165388685
15 SCN2A NM_001040142.2(SCN2A):c.1529_1532AGAA[1] (p.Lys511fs) Microsatellite Pathogenic 533483 rs1553569662 2:166172126-166172129 2:165315616-165315619
16 SCN2A NM_001040142.2(SCN2A):c.3036del (p.Gly1013fs) Deletion Pathogenic 533484 rs1553583659 2:166210816-166210816 2:165354306-165354306
17 SCN2A NM_001040142.2(SCN2A):c.4270dup (p.Trp1424fs) Duplication Pathogenic 533497 rs1553461662 2:166234121-166234122 2:165377611-165377612
18 SCN2A NM_001040142.2(SCN2A):c.658A>G (p.Arg220Gly) SNV Pathogenic 567919 rs1559352550 2:166165914-166165914 2:165309404-165309404
19 SCN2A NM_001040142.2(SCN2A):c.962_970+1del Deletion Pathogenic 579666 rs1559353540 2:166167096-166167105 2:165310586-165310595
20 SCN2A NC_000002.12:g.(?_165365123)_(165389844_?)del Deletion Pathogenic 583829 2:166221633-166246354 2:165365123-165389844
21 SCN2A NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter) SNV Pathogenic 620037 2:166172197-166172197 2:165315687-165315687
22 SCN2A NM_001040142.2(SCN2A):c.5316del (p.Ile1772fs) Deletion Pathogenic 575820 rs1558886168 2:166245632-166245632 2:165389122-165389122
23 SCN2A NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) SNV Pathogenic 436662 rs1553579225 2:166201068-166201068 2:165344558-165344558
24 SCN2A NM_001040142.2(SCN2A):c.573G>T (p.Trp191Cys) SNV Pathogenic 643515 rs1553567381 2:166165272-166165272 2:165308762-165308762
25 SCN2A NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) SNV Pathogenic 29886 rs387906684 2:166223837-166223837 2:165367327-165367327
26 SCN2A NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) SNV Pathogenic 12879 rs121917752 2:166165924-166165924 2:165309414-165309414
27 SCN2A NM_001040142.2(SCN2A):c.4886G>T (p.Arg1629Leu) SNV Pathogenic 660961 rs796053157 2:166245202-166245202 2:165388692-165388692
28 SCN2A NM_001040142.2(SCN2A):c.4350T>G (p.Tyr1450Ter) SNV Pathogenic 665987 rs1574731232 2:166237143-166237143 2:165380633-165380633
29 SCN2A NM_001040142.2(SCN2A):c.4343_4346dup (p.Met1449fs) Duplication Pathogenic 813736 2:166237134-166237135 2:165380624-165380625
30 SCN2A NM_001040142.2(SCN2A):c.2317A>G (p.Thr773Ala) SNV Pathogenic 816922 rs1574611024 2:166188007-166188007 2:165331497-165331497
31 SCN2A NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) SNV Pathogenic 378927 rs1057520413 2:166166916-166166916 2:165310406-165310406
32 SCN2A NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs) Deletion Pathogenic 848365 2:166172126-166172127 2:165315616-165315617
33 SCN2A NM_001040142.2(SCN2A):c.1019dup (p.Asn340fs) Duplication Pathogenic 848371 2:166168581-166168582 2:165312071-165312072
34 SCN2A NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter) SNV Pathogenic 493288 rs1553578503 2:166198965-166198965 2:165342455-165342455
35 SCN2A NM_001040142.2(SCN2A):c.2627A>G (p.Asn876Ser) SNV Pathogenic 449958 rs1553579282 2:166201129-166201129 2:165344619-165344619
36 SCN2A NM_001040142.2(SCN2A):c.4389dup (p.Thr1464fs) Duplication Pathogenic 857716 2:166237179-166237180 2:165380669-165380670
37 SCN2A NM_001040142.2(SCN2A):c.1036C>T (p.Gln346Ter) SNV Pathogenic 870191 2:166170131-166170131 2:165313621-165313621
38 SCN2A NM_001040142.2(SCN2A):c.3850-2A>G SNV Pathogenic 870194 2:166229733-166229733 2:165373223-165373223
39 SCN2A SCN2A, VAL423LEU Variation Pathogenic 932956
40 SCN2A P1622S Variation Pathogenic 932957
41 SCN2A R853Q Variation Pathogenic 932958
42 SCN2A NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter) SNV Pathogenic 946767 2:166166978-166166978 2:165310468-165310468
43 SCN2A NM_001040142.2(SCN2A):c.1363A>T (p.Lys455Ter) SNV Pathogenic 955765 2:166170598-166170598 2:165314088-165314088
44 SCN2A NM_001040142.2(SCN2A):c.7C>T (p.Gln3Ter) SNV Pathogenic 962441 2:166152340-166152340 2:165295830-165295830
45 SCN2A NM_001040142.2(SCN2A):c.2734_2735insTTGTGTCT (p.Cys912fs) Microsatellite Pathogenic 965048 2:166201229-166201230 2:165344719-165344720
46 SCN2A NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) SNV Pathogenic 206996 rs796053134 2:166231247-166231247 2:165374737-165374737
47 SCN2A NM_001040142.2(SCN2A):c.781G>T (p.Val261Leu) SNV Pathogenic 982411 2:166166916-166166916 2:165310406-165310406
48 SCN2A NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) SNV Pathogenic 410982 rs190111194 2:166229840-166229840 2:165373330-165373330
49 SCN2A NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) SNV Pathogenic 207028 rs796053166 2:166245960-166245960 2:165389450-165389450
50 SCN2A NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter) SNV Pathogenic 29885 rs387906683 2:166153563-166153563 2:165297053-165297053

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 11:

73 (show all 49)
# Symbol AA change Variation ID SNP ID
1 SCN2A p.Ala263Val VAR_065178 rs387906686
2 SCN2A p.Glu1211Lys VAR_065180 rs387906684
3 SCN2A p.Ile1473Met VAR_065181 rs387906685
4 SCN2A p.Glu169Gly VAR_069996
5 SCN2A p.Asn212Asp VAR_069997
6 SCN2A p.Val213Asp VAR_069998
7 SCN2A p.Thr236Ser VAR_069999 rs123504453
8 SCN2A p.Ala263Thr VAR_070000
9 SCN2A p.Arg853Gln VAR_070001 rs794727152
10 SCN2A p.Asn876Thr VAR_070002
11 SCN2A p.Glu999Lys VAR_070003 rs796053126
12 SCN2A p.Met1323Val VAR_070004 rs105751952
13 SCN2A p.Val1326Leu VAR_070005
14 SCN2A p.Ser1336Tyr VAR_070006
15 SCN2A p.Met1338Thr VAR_070007
16 SCN2A p.Thr1623Asn VAR_070009
17 SCN2A p.Arg1629Leu VAR_070010
18 SCN2A p.Arg1312Thr VAR_073429
19 SCN2A p.Val251Ile VAR_078196 rs105751952
20 SCN2A p.Ala896Val VAR_078197 rs105751952
21 SCN2A p.Ala1316Val VAR_078198 rs796053130
22 SCN2A p.Cys1344Tyr VAR_078199 rs105751952
23 SCN2A p.Met1548Thr VAR_078200 rs105751952
24 SCN2A p.Arg1882Gln VAR_078201 rs794727444
25 SCN2A p.Asn132Lys VAR_078451
26 SCN2A p.Met136Ile VAR_078452
27 SCN2A p.Glu430Gly VAR_078457 rs796053183
28 SCN2A p.Arg856Leu VAR_078460
29 SCN2A p.Lys905Asn VAR_078461 rs796053119
30 SCN2A p.Phe928Cys VAR_078463
31 SCN2A p.Val1326Asp VAR_078472 rs796053131
32 SCN2A p.Leu1342Pro VAR_078473 rs796053134
33 SCN2A p.Gly1593Arg VAR_078479 rs886041259
34 SCN2A p.Gly1634Val VAR_078482
35 SCN2A p.Leu1660Trp VAR_078483
36 SCN2A p.Arg1882Leu VAR_078486 rs794727444
37 SCN2A p.Gly211Asp VAR_078730
38 SCN2A p.Arg220Gly VAR_078731
39 SCN2A p.Ile873Met VAR_078735
40 SCN2A p.Ser987Ile VAR_078736 rs796053124
41 SCN2A p.Glu999Val VAR_078737
42 SCN2A p.Lys1260Glu VAR_078738
43 SCN2A p.Lys1260Gln VAR_078739
44 SCN2A p.Gln1479Pro VAR_078744
45 SCN2A p.Leu1650Pro VAR_078748
46 SCN2A p.Leu1829Phe VAR_078750 rs155346367
47 SCN2A p.His1853Arg VAR_078751
48 SCN2A p.Trp191Cys VAR_081430
49 SCN2A p.Thr773Ile VAR_081433

Expression for Developmental and Epileptic Encephalopathy 11

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 11.

Pathways for Developmental and Epileptic Encephalopathy 11

Pathways related to Developmental and Epileptic Encephalopathy 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.56 CRLF1 CNTFR CLCF1

GO Terms for Developmental and Epileptic Encephalopathy 11

Cellular components related to Developmental and Epileptic Encephalopathy 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 CNTFR-CLCF1 complex GO:0097059 8.96 CNTFR CLCF1
2 CRLF-CLCF1 complex GO:0097058 8.62 CRLF1 CLCF1

Biological processes related to Developmental and Epileptic Encephalopathy 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transport GO:0098655 9.26 SCN2A NALCN
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.16 CRLF1 CLCF1
3 cytokine-mediated signaling pathway GO:0019221 9.13 CRLF1 CNTFR CLCF1
4 negative regulation of neuron apoptotic process GO:0043524 8.8 CRLF1 CNTFR CLCF1

Molecular functions related to Developmental and Epileptic Encephalopathy 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.32 SCN2A NALCN
2 cytokine receptor activity GO:0004896 9.26 CRLF1 CNTFR
3 cytokine binding GO:0019955 9.16 CRLF1 CNTFR
4 sodium channel activity GO:0005272 8.96 SCN2A NALCN
5 ciliary neurotrophic factor receptor binding GO:0005127 8.62 CRLF1 CLCF1

Sources for Developmental and Epileptic Encephalopathy 11

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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