EIEE7
MCID: EPL068
MIFTS: 38

Epileptic Encephalopathy, Early Infantile, 7 (EIEE7)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 7

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 7:

Name: Epileptic Encephalopathy, Early Infantile, 7 57 74 13 72
Early Infantile Epileptic Encephalopathy 7 12 29 6 15
Kcnq2-Related Neonatal Epileptic Encephalopathy 12 59
Kcnq2-Related Epileptic Encephalopathy 12 59
Eiee7 57 74
Early Infantile Epileptic Encephalopathy with Suppression Bursts 72
Encephalopathy, Epileptic, Early Infantile, Type 7 40
Ohtahara Syndrome 74
Kcnq2-Nee 59

Characteristics:

Orphanet epidemiological data:

59
kcnq2-related epileptic encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
multiple seizures daily at onset
seizure frequency decreases during early childhood
most patients become seizure-free by age 3 or 4 years
variable intrafamilial severity
seizures are refractory to treatment


HPO:

32
epileptic encephalopathy, early infantile, 7:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0080462
MeSH 44 D013036
ICD10 via Orphanet 34 G40.4
Orphanet 59 ORPHA439218
MedGen 42 C3150986
UMLS 72 C0393706 C3150986

Summaries for Epileptic Encephalopathy, Early Infantile, 7

OMIM : 57 Early infantile epileptic encephalopathy-7 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Borgatti et al., 2004). EEG initially shows a burst suppression pattern and later evolves to multifocal epileptiform activity. Brain imaging may show lesions in the basal ganglia. Seizures usually remit by age 3 or 4 years, with improvement of EEG abnormalities and possibly brain imaging abnormalities, but the severe neurologic deficits persist (summary by Weckhuysen et al., 2012). (613720)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 7, also known as early infantile epileptic encephalopathy 7, is related to ohtahara syndrome and early infantile epileptic encephalopathy, and has symptoms including tonic seizures An important gene associated with Epileptic Encephalopathy, Early Infantile, 7 is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). Affiliated tissues include brain, thalamus and globus pallidus, and related phenotypes are intellectual disability and generalized tonic seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has material basis in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.

UniProtKB/Swiss-Prot : 74 Epileptic encephalopathy, early infantile, 7: An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 7

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 ohtahara syndrome 12.7
2 early infantile epileptic encephalopathy 12.3
3 epileptic encephalopathy, early infantile, 1 11.8
4 benign familial neonatal epilepsy 11.5
5 kcnq2-related disorders 11.5
6 west syndrome 10.5
7 visual epilepsy 10.4
8 seizure disorder 10.4
9 epileptic encephalopathy, early infantile, 3 10.4
10 early myoclonic encephalopathy 10.4
11 hemimegalencephaly 10.4
12 lennox-gastaut syndrome 10.4
13 encephalopathy 10.3
14 epilepsy 10.3
15 lissencephaly 10.2
16 microcephaly 10.2
17 stxbp1 encephalopathy with epilepsy 10.2
18 alacrima, achalasia, and mental retardation syndrome 10.1
19 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
20 focal epilepsy 10.1
21 cask-related disorders 10.1
22 polymicrogyria 10.1
23 pachygyria 10.1
24 myoclonus 10.1
25 lipomatosis, multiple 10.0
26 proteus syndrome 10.0
27 cerebellar hypoplasia 10.0
28 macrocephaly/megalencephaly syndrome, autosomal recessive 10.0
29 biotinidase deficiency 10.0
30 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.0
31 opitz-kaveggia syndrome 10.0
32 epileptic encephalopathy, early infantile, 6 10.0
33 seizures, benign familial infantile, 3 10.0
34 epileptic encephalopathy, early infantile, 4 10.0
35 epileptic encephalopathy, early infantile, 11 10.0
36 rigidity and multifocal seizure syndrome, lethal neonatal 10.0
37 electroclinical syndrome 10.0
38 pontocerebellar hypoplasia 10.0
39 pleomorphic lipoma 10.0
40 status epilepticus 10.0
41 hydranencephaly 10.0
42 congenital nystagmus 10.0
43 pathologic nystagmus 10.0
44 agyria pachygyria polymicrogyria 10.0
45 hypertonia 10.0
46 hypotonia 10.0
47 megalencephaly 10.0
48 neuronal migration disorders 10.0
49 cerebral malformation 10.0
50 lethal neonatal spasticity-epileptic encephalopathy syndrome 10.0

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 7:



Diseases related to Epileptic Encephalopathy, Early Infantile, 7

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 7

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 7:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 obligate (100%) Obligate (100%) HP:0001249
2 generalized tonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0010818
3 epileptic encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0200134
4 eeg with burst suppression 59 32 hallmark (90%) Very frequent (99-80%) HP:0010851
5 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
6 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
7 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
8 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
9 inability to walk 59 32 frequent (33%) Frequent (79-30%) HP:0002540
10 apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002104
11 profound global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0012736
12 cerebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0002181
13 epileptic spasms 59 32 frequent (33%) Frequent (79-30%) HP:0011097
14 poor gross motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007015
15 abnormal globus pallidus morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002453
16 facial erythema 59 32 frequent (33%) Frequent (79-30%) HP:0001041
17 hypsarrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002521
18 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
19 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
20 seizures 59 32 Frequent (79-30%) HP:0001250
21 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
22 generalized hypotonia 32 HP:0001290
23 spastic tetraparesis 32 HP:0001285
24 abnormality of the cerebral white matter 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dystonia
hypotonia
mental retardation
delayed psychomotor development
spastic quadriparesis
more

Clinical features from OMIM:

613720

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 7:


tonic seizures

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Seizures Completed NCT02960347 Phase 2, Phase 3
2 Genetics of Epilepsy and Related Disorders Recruiting NCT01858285

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 7

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 7

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 7:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 7 29 KCNQ2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 7

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 7:

41
Brain, Thalamus, Globus Pallidus

Publications for Epileptic Encephalopathy, Early Infantile, 7

Articles related to Epileptic Encephalopathy, Early Infantile, 7:

# Title Authors PMID Year
1
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 8 71
23621294 2013
2
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 8 71
22926866 2012
3
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 8 71
22275249 2012
4
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). 8 71
16235065 2005
5
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 8 71
15249611 2004
6
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 8 71
12742592 2003
7
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
8
KCNQ2-Related Disorders 71
20437616 2010
9
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
10
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 38
25959266 2015

Variations for Epileptic Encephalopathy, Early Infantile, 7

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 7:

6 (show top 50) (show all 108)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ2 NM_172107.4(KCNQ2): c.793G> C (p.Ala265Pro) single nucleotide variant Pathogenic rs794727740 20:62073782-62073782 20:63442429-63442429
2 KCNQ2 NM_172107.4(KCNQ2): c.757G> A (p.Ala253Thr) single nucleotide variant Pathogenic rs1057516093 20:62073818-62073818 20:63442465-63442465
3 KCNQ2 NM_172107.4(KCNQ2): c.715G> C (p.Gly239Arg) single nucleotide variant Pathogenic rs1057516092 20:62073860-62073860 20:63442507-63442507
4 KCNQ2 NM_172107.4(KCNQ2): c.700A> C (p.Thr234Pro) single nucleotide variant Pathogenic rs1057516091 20:62073875-62073875 20:63442522-63442522
5 KCNQ2 NM_172107.4(KCNQ2): c.643G> A (p.Gly215Arg) single nucleotide variant Pathogenic rs1057516088 20:62076059-62076059 20:63444706-63444706
6 KCNQ2 NM_172107.4(KCNQ2): c.613A> G (p.Ile205Val) single nucleotide variant Pathogenic rs1057516087 20:62076089-62076089 20:63444736-63444736
7 KCNQ2 NM_172107.4(KCNQ2): c.608T> C (p.Leu203Pro) single nucleotide variant Pathogenic rs1057516086 20:62076094-62076094 20:63444741-63444741
8 KCNQ2 NM_172107.3(KCNQ2): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs1057516085 20:62076100-62076100 20:63444747-63444747
9 KCNQ2 NM_172107.4(KCNQ2): c.566G> T (p.Gly189Val) single nucleotide variant Pathogenic rs1057516083 20:62076136-62076136 20:63444783-63444783
10 KCNQ2 NM_172107.4(KCNQ2): c.523G> C (p.Val175Leu) single nucleotide variant Pathogenic rs1057516082 20:62076179-62076179 20:63444826-63444826
11 KCNQ2 NM_172107.4(KCNQ2): c.471G> A (p.Trp157Ter) single nucleotide variant Pathogenic rs1057516079 20:62076634-62076634 20:63445281-63445281
12 KCNQ2 NM_172107.4(KCNQ2): c.341C> T (p.Thr114Ile) single nucleotide variant Pathogenic rs1057516077 20:62078146-62078146 20:63446793-63446793
13 KCNQ2 NM_172107.4(KCNQ2): c.2425del (p.Gln809fs) deletion Pathogenic rs1057518662 20:62038191-62038191 20:63406838-63406838
14 KCNQ2 NM_172107.4(KCNQ2): c.2296del (p.Leu766fs) deletion Pathogenic rs1057518668 20:62038320-62038320 20:63406967-63406967
15 KCNQ2 NM_172107.4(KCNQ2): c.902G> A (p.Gly301Asp) single nucleotide variant Pathogenic rs1131691936 20:62070976-62070976 20:63439623-63439623
16 KCNQ2 NM_172107.4(KCNQ2): c.886A> C (p.Thr296Pro) single nucleotide variant Pathogenic rs756921902 20:62070992-62070992 20:63439639-63439639
17 KCNQ2 NM_172107.4(KCNQ2): c.868G> A (p.Gly290Ser) single nucleotide variant Pathogenic rs1057516098 20:62071010-62071010 20:63439657-63439657
18 KCNQ2 NM_172107.4(KCNQ2): c.860C> A (p.Thr287Asn) single nucleotide variant Pathogenic rs727503973 20:62071018-62071018 20:63439665-63439665
19 KCNQ2 NM_172107.4(KCNQ2): c.854C> A (p.Pro285His) single nucleotide variant Pathogenic rs1057516097 20:62071024-62071024 20:63439671-63439671
20 KCNQ2 NM_172107.4(KCNQ2): c.835G> T (p.Gly279Cys) single nucleotide variant Pathogenic rs1057516096 20:62071043-62071043 20:63439690-63439690
21 KCNQ2 NM_172107.4(KCNQ2): c.827C> T (p.Thr276Ile) single nucleotide variant Pathogenic rs1057516095 20:62071051-62071051 20:63439698-63439698
22 KCNQ2 KCNQ2, 10-BP DEL/1-BP INS, NT761 indel Pathogenic
23 KCNQ2 NM_172107.4(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 20:62044904-62044904 20:63413551-63413551
24 KCNQ2 NM_172107.4(KCNQ2): c.740C> G (p.Ser247Trp) single nucleotide variant Pathogenic rs74315392 20:62073835-62073835 20:63442482-63442482
25 KCNQ2 NM_172107.4(KCNQ2): c.2127del (p.Val710fs) deletion Pathogenic rs118192244 20:62038489-62038489 20:63407136-63407136
26 KCNQ2 NM_172107.4(KCNQ2): c.620G> A (p.Arg207Gln) single nucleotide variant Pathogenic rs118192200 20:62076082-62076082 20:63444729-63444729
27 KCNQ2 NM_172107.4(KCNQ2): c.911T> C (p.Phe304Ser) single nucleotide variant Pathogenic rs1057516100 20:62070967-62070967 20:63439614-63439614
28 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 20:62070004-62070004 20:63438651-63438651
29 KCNQ2 NM_172107.4(KCNQ2): c.1636A> G (p.Met546Val) single nucleotide variant Pathogenic rs397515420 20:62044930-62044930 20:63413577-63413577
30 KCNQ2 NM_172107.4(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 20:62071009-62071009 20:63439656-63439656
31 KCNQ2 NM_172107.4(KCNQ2): c.1197del (p.Ser399fs) deletion Pathogenic rs587780365 20:62059740-62059740 20:63428387-63428387
32 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Pathogenic rs727503974 20:62071057-62071057 20:63439704-63439704
33 KCNQ2 NM_172107.4(KCNQ2): c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 20:62044831-62044832 20:63413478-63413479
34 KCNQ2 NM_172107.4(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 20:62044832-62044832 20:63413479-63413479
35 KCNQ2 NM_172107.3(KCNQ2): c.1687G> A (p.Asp563Asn) single nucleotide variant Pathogenic rs796052653 20:62044879-62044879 20:63413526-63413526
36 KCNQ2 NM_172107.4(KCNQ2): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs796052652 20:62044884-62044884 20:63413531-63413531
37 KCNQ2 NM_172107.4(KCNQ2): c.698_699insACC (p.Thr234_Ala235insPro) insertion Pathogenic rs794729197 20:62073876-62073877 20:63442523-63442524
38 KCNQ2 NM_172107.4(KCNQ2): c.1610_1615del (p.Lys537_Val538del) deletion Pathogenic rs1555853977 20:62045457-62045462 20:63414104-63414109
39 KCNQ2 NM_172107.4(KCNQ2): c.926C> T (p.Ala309Val) single nucleotide variant Pathogenic rs1057516101 20:62070952-62070952 20:63439599-63439599
40 KCNQ2 NM_172107.4(KCNQ2): c.973A> C (p.Arg325=) single nucleotide variant Pathogenic rs1057516103 20:62070028-62070028 20:63438675-63438675
41 KCNQ2 NM_172107.4(KCNQ2): c.973A> G (p.Arg325Gly) single nucleotide variant Pathogenic rs1057516103 20:62070028-62070028 20:63438675-63438675
42 KCNQ2 NM_172107.4(KCNQ2): c.1024-2A> G single nucleotide variant Pathogenic rs1057516104 20:62065258-62065258 20:63433905-63433905
43 KCNQ2 NM_172107.4(KCNQ2): c.1066C> G (p.Leu356Val) single nucleotide variant Pathogenic rs1057516109 20:62065214-62065214 20:63433861-63433861
44 KCNQ2 NM_172107.4(KCNQ2): c.1203T> C (p.Ser401=) single nucleotide variant Pathogenic rs756007198 20:62059734-62059734 20:63428381-63428381
45 KCNQ2 NM_172107.4(KCNQ2): c.1382A> C (p.Gln461Pro) single nucleotide variant Pathogenic rs1057516116 20:62046399-62046399 20:63415046-63415046
46 KCNQ2 NM_172107.4(KCNQ2): c.1501G> C (p.Ala501Pro) single nucleotide variant Pathogenic rs1057516118 20:62046280-62046280 20:63414927-63414927
47 KCNQ2 NM_172107.4(KCNQ2): c.1621A> G (p.Arg541Gly) single nucleotide variant Pathogenic rs1555853971 20:62045451-62045451 20:63414098-63414098
48 KCNQ2 NM_172107.4(KCNQ2): c.1655A> C (p.Lys552Thr) single nucleotide variant Pathogenic rs1555853613 20:62044911-62044911 20:63413558-63413558
49 KCNQ2 NM_172107.4(KCNQ2): c.1658G> T (p.Arg553Leu) single nucleotide variant Pathogenic rs118192234 20:62044908-62044908 20:63413555-63413555
50 KCNQ2 NM_172107.4(KCNQ2): c.1689C> G (p.Asp563Glu) single nucleotide variant Pathogenic rs35450031 20:62044877-62044877 20:63413524-63413524

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 7:

74 (show all 15)
# Symbol AA change Variation ID SNP ID
1 KCNQ2 p.Ala306Thr VAR_010931 rs74315390
2 KCNQ2 p.Ser247Trp VAR_026991 rs74315392
3 KCNQ2 p.Lys554Asn VAR_026993 rs267607198
4 KCNQ2 p.Asp266Glu VAR_078207 rs105751953
5 KCNQ2 p.Leu268Phe VAR_078208 rs105751609
6 KCNQ2 p.Arg291Ser VAR_078209 rs105751953
7 KCNQ2 p.Ala294Val VAR_078210 rs118192211
8 KCNQ2 p.Gly301Ser VAR_078211 rs105751609
9 KCNQ2 p.Arg581Gln VAR_078212 rs118192235
10 KCNQ2 p.Arg201Cys VAR_078663 rs796052623
11 KCNQ2 p.Arg210Cys VAR_078665 rs796052626
12 KCNQ2 p.Arg213Gln VAR_078666 rs397514581
13 KCNQ2 p.Thr234Pro VAR_078669 rs105751609
14 KCNQ2 p.Thr276Ile VAR_078670 rs105751609
15 KCNQ2 p.Pro561Ser VAR_078675

Expression for Epileptic Encephalopathy, Early Infantile, 7

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 7.

Pathways for Epileptic Encephalopathy, Early Infantile, 7

GO Terms for Epileptic Encephalopathy, Early Infantile, 7

Sources for Epileptic Encephalopathy, Early Infantile, 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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