EIEE7
MCID: EPL068
MIFTS: 47

Epileptic Encephalopathy, Early Infantile, 7 (EIEE7)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological 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 56 73 13 71
Early Infantile Epileptic Encephalopathy 7 12 29 6 15
Kcnq2-Related Neonatal Epileptic Encephalopathy 12 58
Kcnq2-Related Epileptic Encephalopathy 12 58
Eiee7 56 73
Early Infantile Epileptic Encephalopathy with Suppression Bursts 71
Encephalopathy, Epileptic, Early Infantile, Type 7 39
Ohtahara Syndrome 73
Kcnq2-Nee 58

Characteristics:

Orphanet epidemiological data:

58
kcnq2-related epileptic encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
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:

31
epileptic encephalopathy, early infantile, 7:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 7

OMIM : 56 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 early infantile epileptic encephalopathy and benign familial neonatal epilepsy, 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), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include brain, globus pallidus and thalamus, and related phenotypes are intellectual disability and epileptic encephalopathy

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 : 73 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
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 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 33.0 KCNT1 KCNQ3 KCNQ2
2 benign familial neonatal epilepsy 32.5 KCNQ3 KCNQ2
3 west syndrome 30.6 KCNT1 KCNQ3 KCNQ2
4 kcnq2-related disorders 30.5 KCNQ3 KCNQ2
5 early myoclonic encephalopathy 30.5 KCNT1 KCNQ3 KCNQ2
6 lennox-gastaut syndrome 30.5 KCNT1 KCNQ3 KCNQ2
7 focal epilepsy 30.0 KCNT1 KCNQ3 KCNQ2
8 electroclinical syndrome 29.9 KCNT1 KCNQ3 KCNQ2
9 epileptic encephalopathy, early infantile, 6 29.9 KCNT1 KCNQ3 KCNQ2
10 ohtahara syndrome 12.7
11 epileptic encephalopathy, early infantile, 1 11.8
12 epileptic encephalopathy, early infantile, 3 10.4
13 hemimegalencephaly 10.4
14 visual epilepsy 10.3
15 encephalopathy 10.3
16 seizure disorder 10.3
17 seizures, benign familial neonatal, 2 10.2 KCNQ3 KCNQ2
18 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.2 KCNQ3 KCNQ2
19 early onset absence epilepsy 10.2 KCNQ3 KCNQ2
20 lissencephaly 10.2
21 microcephaly 10.2
22 epilepsy 10.2
23 stxbp1 encephalopathy with epilepsy 10.2
24 epilepsy, nocturnal frontal lobe, 1 10.2 KCNQ3 KCNQ2
25 landau-kleffner syndrome 10.2 KCNT1 KCNQ2
26 alacrima, achalasia, and mental retardation syndrome 10.1
27 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
28 polymicrogyria 10.1
29 pachygyria 10.1
30 myoclonus 10.1
31 eastern equine encephalitis 10.1 KCNQ3 KCNQ2
32 epileptic encephalopathy, early infantile, 9 10.1 KCNT1 KCNQ2
33 adolescence-adult electroclinical syndrome 10.1 KCNQ3 KCNQ2
34 photosensitive epilepsy 10.0 KCNQ3 KCNQ2
35 infancy electroclinical syndrome 10.0 KCNT1 KCNQ3 KCNQ2
36 childhood electroclinical syndrome 10.0 KCNT1 KCNQ3 KCNQ2
37 neonatal period electroclinical syndrome 10.0 KCNT1 KCNQ3 KCNQ2
38 episodic ataxia 10.0 KCNQ3 KCNQ2 KCNA10
39 benign familial infantile epilepsy 10.0 KCNT1 KCNQ3 KCNQ2
40 biotinidase deficiency 10.0
41 abnormal hair, joint laxity, and developmental delay 10.0
42 pontocerebellar hypoplasia 10.0
43 cerebellar hypoplasia 10.0
44 pleomorphic lipoma 10.0
45 polyneuropathy 10.0
46 status epilepticus 10.0
47 hydranencephaly 10.0
48 epileptic encephalopathy, early infantile, 81 10.0
49 rigidity and multifocal seizure syndrome, lethal neonatal 10.0
50 epileptic encephalopathy, early infantile, 11 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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 obligate (100%) Obligate (100%) HP:0001249
2 epileptic encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0200134
3 eeg with burst suppression 58 31 hallmark (90%) Very frequent (99-80%) HP:0010851
4 generalized tonic seizure 31 hallmark (90%) HP:0010818
5 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
6 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
7 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
8 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
9 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
10 profound global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012736
11 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
12 cerebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0002181
13 facial erythema 58 31 frequent (33%) Frequent (79-30%) HP:0001041
14 abnormal globus pallidus morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002453
15 poor gross motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007015
16 epileptic spasm 31 frequent (33%) HP:0011097
17 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
18 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
19 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
20 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
21 seizures 58 Frequent (79-30%)
22 spastic tetraparesis 31 HP:0001285
23 abnormality of the cerebral white matter 58 Very frequent (99-80%)
24 generalized hypotonia 31 HP:0001290
25 generalized tonic seizures 58 Very frequent (99-80%)
26 epileptic spasms 58 Frequent (79-30%)
27 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dystonia
hypotonia
mental retardation
delayed psychomotor development
thin corpus callosum (in some patients)
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:

40
Brain, Globus Pallidus, Thalamus

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. 6 56
23621294 2013
2
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 6 56
22926866 2012
3
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 56 6
22275249 2012
4
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). 6 56
16235065 2005
5
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 6 56
15249611 2004
6
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 56 6
12742592 2003
7
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
8
KCNQ2-Related Disorders 6
20437616 2010
9
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
10
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 61
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 119) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ2 NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)SNV Pathogenic 431095 rs1131691936 20:62070976-62070976 20:63439623-63439623
2 KCNQ2 NM_172107.4(KCNQ2):c.1610_1615del (p.Lys537_Val538del)deletion Pathogenic 433180 rs1555853977 20:62045457-62045462 20:63414104-63414109
3 KCNQ2 NM_172107.4(KCNQ2):c.958_993dup (p.Val320_Lys331dup)duplication Pathogenic 617505 rs1568925507 20:62070007-62070008 20:63438654-63438655
4 KCNQ2 NM_172107.4(KCNQ2):c.1149-2A>GSNV Pathogenic 870205 20:62059790-62059790 20:63428437-63428437
5 KCNQ2 KCNQ2, 10-BP DEL/1-BP INS, NT761indel Pathogenic 7387
6 KCNQ2 NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)SNV Pathogenic 7388 rs267607198 20:62044904-62044904 20:63413551-63413551
7 KCNQ2 NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)SNV Pathogenic 818228 20:62065200-62065200 20:63433847-63433847
8 KCNQ2 NM_172107.4(KCNQ2):c.2127del (p.Val710fs)deletion Pathogenic 7390 rs118192244 20:62038489-62038489 20:63407136-63407136
9 KCNQ2 NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)SNV Pathogenic 7391 rs118192200 20:62076082-62076082 20:63444729-63444729
10 KCNQ2 NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)SNV Pathogenic 21792 rs118192199 20:62076115-62076115 20:63444762-63444762
11 KCNQ2 NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)SNV Pathogenic 21809 rs118192215 20:62070004-62070004 20:63438651-63438651
12 KCNQ2 NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val)SNV Pathogenic 39761 rs397515420 20:62044930-62044930 20:63413577-63413577
13 KCNQ2 NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp)SNV Pathogenic 39762 rs397514582 20:62071009-62071009 20:63439656-63439656
14 KCNQ2 NM_172107.4(KCNQ2):c.1197del (p.Ser399fs)deletion Pathogenic 129331 rs587780365 20:62059740-62059740 20:63428387-63428387
15 KCNQ2 NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)SNV Pathogenic 167208 rs727503974 20:62071057-62071057 20:63439704-63439704
16 KCNQ2 NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet)indel Pathogenic 205942 rs796052665 20:62044831-62044832 20:63413478-63413479
17 KCNQ2 NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile)SNV Pathogenic 205919 rs796052655 20:62044832-62044832 20:63413479-63413479
18 KCNQ2 NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)SNV Pathogenic 205917 rs796052653 20:62044879-62044879 20:63413526-63413526
19 KCNQ2 NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu)SNV Pathogenic 205916 rs796052652 20:62044884-62044884 20:63413531-63413531
20 KCNQ2 NM_172107.4(KCNQ2):c.698_699insACC (p.Thr234_Ala235insPro)insertion Pathogenic 202170 rs794729197 20:62073876-62073877 20:63442523-63442524
21 KCNQ2 NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu)SNV Pathogenic 205914 rs1555853593 20:62044900-62044900 20:63413547-63413547
22 KCNQ2 NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly)SNV Pathogenic 205894 rs796052643 20:62069991-62069991 20:63438638-63438638
23 KCNQ2 NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)SNV Pathogenic 205867 rs796052621 20:62076109-62076109 20:63444756-63444756
24 KCNQ2 NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp)SNV Pathogenic 216949 rs794727813 20:62071037-62071037 20:63439684-63439684
25 KCNQ2 NM_172107.4(KCNQ2):c.2147C>T (p.Thr716Ile)SNV Pathogenic 219239 rs864321711 20:62038469-62038469 20:63407116-63407116
26 KCNQ2 NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg)SNV Pathogenic 219237 rs864321709 20:62070058-62070058 20:63438705-63438705
27 KCNQ2 NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)SNV Pathogenic 219235 rs864321707 20:62070961-62070961 20:63439608-63439608
28 KCNQ2 NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp)SNV Pathogenic 219234 rs864321706 20:62071028-62071028 20:63439675-63439675
29 KCNQ2 NM_172107.4(KCNQ2):c.803T>C (p.Leu268Pro)SNV Pathogenic 219236 rs864321708 20:62073772-62073772 20:63442419-63442419
30 KCNQ2 NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys)SNV Pathogenic 219238 rs864321710 20:62076717-62076717 20:63445364-63445364
31 KCNQ2 NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly)SNV Pathogenic 265380 rs118192236 20:62044825-62044825 20:63413472-63413472
32 KCNQ2 NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)SNV Pathogenic 279931 rs886041262 20:62076073-62076073 20:63444720-63444720
33 KCNQ2 NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)SNV Pathogenic 280614 rs886041262 20:62076073-62076073 20:63444720-63444720
34 KCNQ2 NM_172107.4(KCNQ2):c.1689C>G (p.Asp563Glu)SNV Pathogenic 369806 rs35450031 20:62044877-62044877 20:63413524-63413524
35 KCNQ2 NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu)SNV Pathogenic 369805 rs118192234 20:62044908-62044908 20:63413555-63413555
36 KCNQ2 NM_172107.4(KCNQ2):c.1655A>C (p.Lys552Thr)SNV Pathogenic 369804 rs1555853613 20:62044911-62044911 20:63413558-63413558
37 KCNQ2 NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly)SNV Pathogenic 369800 rs1555853971 20:62045451-62045451 20:63414098-63414098
38 KCNQ2 NM_172107.4(KCNQ2):c.1501G>C (p.Ala501Pro)SNV Pathogenic 369797 rs1057516118 20:62046280-62046280 20:63414927-63414927
39 KCNQ2 NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)SNV Pathogenic 369794 rs1057516116 20:62046399-62046399 20:63415046-63415046
40 KCNQ2 NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=)SNV Pathogenic 369789 rs756007198 20:62059734-62059734 20:63428381-63428381
41 KCNQ2 NM_172107.4(KCNQ2):c.1066C>G (p.Leu356Val)SNV Pathogenic 369782 rs1057516109 20:62065214-62065214 20:63433861-63433861
42 KCNQ2 NM_172107.4(KCNQ2):c.1024-2A>GSNV Pathogenic 369776 rs1057516104 20:62065258-62065258 20:63433905-63433905
43 KCNQ2 NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly)SNV Pathogenic 369775 rs1057516103 20:62070028-62070028 20:63438675-63438675
44 KCNQ2 NM_172107.4(KCNQ2):c.973A>C (p.Arg325=)SNV Pathogenic 369774 rs1057516103 20:62070028-62070028 20:63438675-63438675
45 KCNQ2 NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)SNV Pathogenic 369772 rs1057516101 20:62070952-62070952 20:63439599-63439599
46 KCNQ2 NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser)SNV Pathogenic 369771 rs1057516100 20:62070967-62070967 20:63439614-63439614
47 KCNQ2 NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro)SNV Pathogenic 369769 rs756921902 20:62070992-62070992 20:63439639-63439639
48 KCNQ2 NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser)SNV Pathogenic 369768 rs1057516098 20:62071010-62071010 20:63439657-63439657
49 KCNQ2 NM_172107.4(KCNQ2):c.860C>A (p.Thr287Asn)SNV Pathogenic 369767 rs727503973 20:62071018-62071018 20:63439665-63439665
50 KCNQ2 NM_172107.4(KCNQ2):c.854C>A (p.Pro285His)SNV Pathogenic 369766 rs1057516097 20:62071024-62071024 20:63439671-63439671

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

73 (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

Pathways related to Epileptic Encephalopathy, Early Infantile, 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNN1 KCND1
2 11.91 KCNS1 KCNQ3 KCNQ2 KCND1 KCNA10
3
Show member pathways
11.34 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNN1 KCND1
4 11.09 KCNQ3 KCNQ2
5 10.73 KCNQ3 KCNQ2

GO Terms for Epileptic Encephalopathy, Early Infantile, 7

Cellular components related to Epileptic Encephalopathy, Early Infantile, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.02 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNN1
2 integral component of membrane GO:0016021 9.92 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNN1
3 plasma membrane GO:0005886 9.61 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNN1
4 axon initial segment GO:0043194 9.26 KCNQ3 KCNQ2
5 voltage-gated potassium channel complex GO:0008076 9.17 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNN1 KCND1
6 node of Ranvier GO:0033268 9.16 KCNQ3 KCNQ2

Biological processes related to Epileptic Encephalopathy, Early Infantile, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 KCNV2 KCNS1 KCNQ3 KCNQ2 KCND1 KCNA10
2 ion transport GO:0006811 9.76 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNN1
3 regulation of ion transmembrane transport GO:0034765 9.73 KCNV2 KCNS1 KCNQ3 KCNQ2 KCND1 KCNA10
4 protein homooligomerization GO:0051260 9.67 KCNV2 KCNS1 KCND1 KCNA10
5 chemical synaptic transmission GO:0007268 9.58 KCNQ3 KCNQ2 KCNN1
6 potassium ion transmembrane transport GO:0071805 9.56 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNN1
7 potassium ion transport GO:0006813 9.23 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNN1

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.73 KCNV2 KCNS1 KCNQ3 KCNQ2 KCND1 KCNA10
2 voltage-gated ion channel activity GO:0005244 9.63 KCNV2 KCNS1 KCNQ3 KCNQ2 KCND1 KCNA10
3 delayed rectifier potassium channel activity GO:0005251 9.62 KCNS1 KCNQ3 KCNQ2 KCNA10
4 calmodulin binding GO:0005516 9.54 KCNQ3 KCNQ2 KCNN1
5 voltage-gated potassium channel activity GO:0005249 9.43 KCNV2 KCNS1 KCNQ3 KCNQ2 KCND1 KCNA10
6 potassium channel activity GO:0005267 9.17 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCND1

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
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....