EIEE7
MCID: EPL068
MIFTS: 34

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 58 76 13 74
Early Infantile Epileptic Encephalopathy 7 12 30 6 15
Kcnq2-Related Neonatal Epileptic Encephalopathy 12 60
Kcnq2-Related Epileptic Encephalopathy 12 60
Eiee7 58 76
Early Infantile Epileptic Encephalopathy with Suppression Bursts 74
Encephalopathy, Epileptic, Early Infantile, Type 7 41
Ohtahara Syndrome 76
Kcnq2-Nee 60

Characteristics:

Orphanet epidemiological data:

60
kcnq2-related epileptic encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
epileptic encephalopathy, early infantile, 7:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Epileptic Encephalopathy, Early Infantile, 7

OMIM : 58 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, globus pallidus and thalamus, 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 : 76 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

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 ohtahara syndrome 12.6
2 early infantile epileptic encephalopathy 12.1
3 epileptic encephalopathy, early infantile, 1 11.7
4 benign familial neonatal epilepsy 11.4
5 kcnq2-related disorders 11.4
6 encephalopathy 10.3
7 epileptic encephalopathy, early infantile, 3 10.3
8 epileptic encephalopathy, early infantile, 4 10.3
9 epilepsy 10.3
10 early myoclonic encephalopathy 10.3
11 hemimegalencephaly 10.3
12 epileptic encephalopathy, early infantile, 15 10.1
13 west syndrome 10.1
14 lipomatosis, multiple 9.9
15 proteus syndrome 9.9
16 cerebellar hypoplasia 9.9
17 biotinidase deficiency 9.9
18 rigidity and multifocal seizure syndrome, lethal neonatal 9.9
19 pleomorphic lipoma 9.9
20 microcephaly 9.9
21 megalencephaly 9.9
22 hypertonia 9.9

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:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 obligate (100%) Obligate (100%) HP:0001249
2 generalized tonic seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0010818
3 epileptic encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0200134
4 eeg with burst suppression 60 33 hallmark (90%) Very frequent (99-80%) HP:0010851
5 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
6 pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000980
7 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
8 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
9 inability to walk 60 33 frequent (33%) Frequent (79-30%) HP:0002540
10 apnea 60 33 frequent (33%) Frequent (79-30%) HP:0002104
11 profound global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0012736
12 epileptic spasms 60 33 frequent (33%) Frequent (79-30%) HP:0011097
13 cerebral edema 60 33 frequent (33%) Frequent (79-30%) HP:0002181
14 abnormal globus pallidus morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002453
15 poor gross motor coordination 60 33 frequent (33%) Frequent (79-30%) HP:0007015
16 facial erythema 60 33 frequent (33%) Frequent (79-30%) HP:0001041
17 hypsarrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002521
18 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
19 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
20 seizures 60 33 Frequent (79-30%) HP:0001250
21 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
22 generalized hypotonia 33 HP:0001290
23 spastic tetraparesis 33 HP:0001285
24 abnormality of the cerebral white matter 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

Search Clinical Trials , 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 30 KCNQ2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 7

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

42
Brain, Globus Pallidus, Thalamus, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 7

Articles related to Epileptic Encephalopathy, Early Infantile, 7:

# Title Authors Year
1
Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy. ( 28832002 )
2017
2
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. ( 23621294 )
2013
3
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. ( 22926866 )
2012
4
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. ( 22275249 )
2012
5
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC). ( 16235065 )
2005
6
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. ( 15249611 )
2004
7
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. ( 12742592 )
2003

Variations for Epileptic Encephalopathy, Early Infantile, 7

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

76 (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

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

6 (show top 50) (show all 215)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.640C> T (p.Arg214Trp) single nucleotide variant Likely pathogenic rs28939684 GRCh37 Chromosome 20, 62076062: 62076062
2 KCNQ2 NM_172107.3(KCNQ2): c.640C> T (p.Arg214Trp) single nucleotide variant Likely pathogenic rs28939684 GRCh38 Chromosome 20, 63444709: 63444709
3 KCNQ2 KCNQ2, 10-BP DEL/1-BP INS, NT761 indel Pathogenic
4 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh37 Chromosome 20, 62044904: 62044904
5 KCNQ2 NM_172107.3(KCNQ2): c.1662G> T (p.Lys554Asn) single nucleotide variant Pathogenic rs267607198 GRCh38 Chromosome 20, 63413551: 63413551
6 KCNQ2 NM_172107.3(KCNQ2): c.740C> G (p.Ser247Trp) single nucleotide variant Pathogenic rs74315392 GRCh37 Chromosome 20, 62073835: 62073835
7 KCNQ2 NM_172107.3(KCNQ2): c.740C> G (p.Ser247Trp) single nucleotide variant Pathogenic rs74315392 GRCh38 Chromosome 20, 63442482: 63442482
8 KCNQ2 NM_172107.3(KCNQ2): c.2127del (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh37 Chromosome 20, 62038489: 62038489
9 KCNQ2 NM_172107.3(KCNQ2): c.2127del (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh38 Chromosome 20, 63407136: 63407136
10 KCNQ2 NM_172107.3(KCNQ2): c.620G> A (p.Arg207Gln) single nucleotide variant Pathogenic rs118192200 GRCh37 Chromosome 20, 62076082: 62076082
11 KCNQ2 NM_172107.3(KCNQ2): c.620G> A (p.Arg207Gln) single nucleotide variant Pathogenic rs118192200 GRCh38 Chromosome 20, 63444729: 63444729
12 KCNQ2 NM_172107.3(KCNQ2): c.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic/Likely pathogenic rs118192194 GRCh37 Chromosome 20, 62078122: 62078122
13 KCNQ2 NM_172107.3(KCNQ2): c.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic/Likely pathogenic rs118192194 GRCh38 Chromosome 20, 63446769: 63446769
14 KCNQ2 NM_172107.3(KCNQ2): c.637C> T (p.Arg213Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118192203 GRCh37 Chromosome 20, 62076065: 62076065
15 KCNQ2 NM_172107.3(KCNQ2): c.637C> T (p.Arg213Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118192203 GRCh38 Chromosome 20, 63444712: 63444712
16 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 GRCh37 Chromosome 20, 62070004: 62070004
17 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 GRCh38 Chromosome 20, 63438651: 63438651
18 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh37 Chromosome 20, 62076064: 62076064
19 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh38 Chromosome 20, 63444711: 63444711
20 KCNQ2 NM_172107.3(KCNQ2): c.1636A> G (p.Met546Val) single nucleotide variant Pathogenic rs397515420 GRCh37 Chromosome 20, 62044930: 62044930
21 KCNQ2 NM_172107.3(KCNQ2): c.1636A> G (p.Met546Val) single nucleotide variant Pathogenic rs397515420 GRCh38 Chromosome 20, 63413577: 63413577
22 KCNQ2 NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 GRCh37 Chromosome 20, 62071009: 62071009
23 KCNQ2 NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 GRCh38 Chromosome 20, 63439656: 63439656
24 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777219 GRCh37 Chromosome 20, 62073781: 62073781
25 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777219 GRCh38 Chromosome 20, 63442428: 63442428
26 KCNQ2 NM_172107.3(KCNQ2): c.1197del (p.Ser399Argfs) deletion Pathogenic rs587780365 GRCh37 Chromosome 20, 62059740: 62059740
27 KCNQ2 NM_172107.3(KCNQ2): c.1197del (p.Ser399Argfs) deletion Pathogenic rs587780365 GRCh38 Chromosome 20, 63428387: 63428387
28 KCNQ2 NM_172107.3(KCNQ2): c.2613G> T (p.Arg871Ser) single nucleotide variant Likely benign rs587780369 GRCh37 Chromosome 20, 62038003: 62038003
29 KCNQ2 NM_172107.3(KCNQ2): c.2613G> T (p.Arg871Ser) single nucleotide variant Likely benign rs587780369 GRCh38 Chromosome 20, 63406650: 63406650
30 KCNQ2 NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=) single nucleotide variant Conflicting interpretations of pathogenicity rs35450031 GRCh37 Chromosome 20, 62044877: 62044877
31 KCNQ2 NM_172107.3(KCNQ2): c.1689C> T (p.Asp563=) single nucleotide variant Conflicting interpretations of pathogenicity rs35450031 GRCh38 Chromosome 20, 63413524: 63413524
32 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Pathogenic rs727503974 GRCh37 Chromosome 20, 62071057: 62071057
33 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Pathogenic rs727503974 GRCh38 Chromosome 20, 63439704: 63439704
34 KCNQ2 NM_172107.3(KCNQ2): c.1627G> A (p.Val543Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727134 GRCh37 Chromosome 20, 62045445: 62045445
35 KCNQ2 NM_172107.3(KCNQ2): c.1627G> A (p.Val543Met) single nucleotide variant Conflicting interpretations of pathogenicity rs794727134 GRCh38 Chromosome 20, 63414092: 63414092
36 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
37 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh38 Chromosome 20, 63442429: 63442429
38 KCNQ2 NM_172107.3(KCNQ2): c.841G> A (p.Gly281Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794727813 GRCh37 Chromosome 20, 62071037: 62071037
39 KCNQ2 NM_172107.3(KCNQ2): c.841G> A (p.Gly281Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794727813 GRCh38 Chromosome 20, 63439684: 63439684
40 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh37 Chromosome 20, 62073876: 62073877
41 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh38 Chromosome 20, 63442523: 63442524
42 KCNQ2 NM_172107.3(KCNQ2): c.2102_2104delTCT (p.Phe701del) deletion Uncertain significance rs758334927 GRCh37 Chromosome 20, 62038512: 62038514
43 KCNQ2 NM_172107.3(KCNQ2): c.2102_2104delTCT (p.Phe701del) deletion Uncertain significance rs758334927 GRCh38 Chromosome 20, 63407159: 63407161
44 KCNQ2 NM_172107.3(KCNQ2): c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 GRCh38 Chromosome 20, 63413478: 63413479
45 KCNQ2 NM_172107.3(KCNQ2): c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 GRCh37 Chromosome 20, 62044831: 62044832
46 KCNQ2 NM_172107.3(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 GRCh38 Chromosome 20, 63413479: 63413479
47 KCNQ2 NM_172107.3(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 GRCh37 Chromosome 20, 62044832: 62044832
48 KCNQ2 NM_172107.3(KCNQ2): c.1687G> A (p.Asp563Asn) single nucleotide variant Pathogenic rs796052653 GRCh38 Chromosome 20, 63413526: 63413526
49 KCNQ2 NM_172107.3(KCNQ2): c.1687G> A (p.Asp563Asn) single nucleotide variant Pathogenic rs796052653 GRCh37 Chromosome 20, 62044879: 62044879
50 KCNQ2 NM_172107.3(KCNQ2): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs796052652 GRCh38 Chromosome 20, 63413531: 63413531

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

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