MCID: EPL068
MIFTS: 35

Epileptic Encephalopathy, Early Infantile, 7

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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 75 13 73
Early Infantile Epileptic Encephalopathy 7 29 6
Eiee7 57 75
Early Infantile Epileptic Encephalopathy with Suppression Bursts 73
Encephalopathy, Epileptic, Early Infantile, Type 7 40
Kcnq2-Related Neonatal Epileptic Encephalopathy 59
Kcnq2-Related Epileptic Encephalopathy 59
Ohtahara Syndrome 75
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:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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 epileptic encephalopathy, early infantile, 15 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). Affiliated tissues include brain, globus pallidus and thalamus, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 75 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 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 12.0
2 benign familial neonatal epilepsy 11.2
3 kcnq2-related disorders 11.2
4 epileptic encephalopathy, early infantile, 1 11.2
5 encephalopathy 10.3
6 infantile epileptic encephalopathy 10.2
7 epilepsy 10.1
8 epileptic encephalopathy, early infantile, 3 10.1
9 epileptic encephalopathy, early infantile, 4 10.1
10 early myoclonic encephalopathy 10.1
11 hemimegalencephaly 10.1
12 west syndrome 9.9
13 proteus syndrome 9.8
14 cerebellar hypoplasia 9.8
15 biotinidase deficiency 9.8
16 microcephaly 9.8
17 movement disease 9.8
18 hypertonia 9.8
19 megalencephaly 9.8

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

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

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 obligate (100%) Obligate (100%) HP:0001249
2 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
3 generalized tonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0010818
4 eeg with burst suppression 59 32 hallmark (90%) Very frequent (99-80%) HP:0010851
5 epileptic encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0200134
6 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
7 facial erythema 59 32 frequent (33%) Frequent (79-30%) HP:0001041
8 seizures 59 32 Frequent (79-30%) HP:0001250
9 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
10 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
11 apnea 59 32 frequent (33%) Frequent (79-30%) HP:0002104
12 cerebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0002181
13 inability to walk 59 32 frequent (33%) Frequent (79-30%) HP:0002540
14 poor gross motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007015
15 epileptic spasms 59 32 frequent (33%) Frequent (79-30%) HP:0011097
16 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
17 profound global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0012736
18 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
19 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
20 hypsarrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002521
21 abnormality of the cerebral white matter 59 Very frequent (99-80%)
22 abnormality of the globus pallidus 59 Frequent (79-30%)
23 spastic tetraparesis 32 HP:0001285
24 generalized hypotonia 32 HP:0001290
25 abnormal globus pallidus morphology 32 frequent (33%) HP:0002453

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 29 KCNQ2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 7

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

41
Brain, Globus Pallidus, Thalamus

Publications for Epileptic Encephalopathy, Early Infantile, 7

Articles related to Epileptic Encephalopathy, Early Infantile, 7:

(show all 12)
# Title Authors Year
1
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. ( 20887364 )
2010
2
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
3
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
4
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
5
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
6
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
7
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 10080520 )
1999
8
[Effect of the ketogenic diet for West syndrome into which early infantile epileptic encephalopathy with suppression-burst was evolved]. ( 7576784 )
1995
9
MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3241488 )
1988
10
Clinical evaluation and MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3386190 )
1988
11
Early infantile epileptic encephalopathy with suppression burst: Ohtahara syndrome. ( 3678631 )
1987
12
The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects. ( 3434712 )
1987

Variations for Epileptic Encephalopathy, Early Infantile, 7

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

75 (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 rs1057519536Epileptic
5 KCNQ2 p.Leu268Phe VAR_078208 rs1057516094Epileptic
6 KCNQ2 p.Arg291Ser VAR_078209 rs1057519535Epileptic
7 KCNQ2 p.Ala294Val VAR_078210 rs118192211
8 KCNQ2 p.Gly301Ser VAR_078211 rs1057516099Epileptic
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 rs1057516091Epileptic
14 KCNQ2 p.Thr276Ile VAR_078670 rs1057516095Epileptic
15 KCNQ2 p.Pro561Ser VAR_078675

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

6
(show top 50) (show all 87)
# 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.2127delT (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh37 Chromosome 20, 62038489: 62038489
9 KCNQ2 NM_172107.3(KCNQ2): c.2127delT (p.Val710Serfs) deletion Pathogenic rs118192244 GRCh38 Chromosome 20, 63407136: 63407136
10 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
11 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh38 Chromosome 20, 63415086: 63415086
12 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh37 Chromosome 20, 62076064: 62076064
13 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh38 Chromosome 20, 63444711: 63444711
14 KCNQ2 NM_172107.3(KCNQ2): c.1636A> G (p.Met546Val) single nucleotide variant Pathogenic rs397515420 GRCh37 Chromosome 20, 62044930: 62044930
15 KCNQ2 NM_172107.3(KCNQ2): c.1636A> G (p.Met546Val) single nucleotide variant Pathogenic rs397515420 GRCh38 Chromosome 20, 63413577: 63413577
16 KCNQ2 NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 GRCh37 Chromosome 20, 62071009: 62071009
17 KCNQ2 NM_172107.3(KCNQ2): c.869G> A (p.Gly290Asp) single nucleotide variant Pathogenic rs397514582 GRCh38 Chromosome 20, 63439656: 63439656
18 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic rs587777219 GRCh37 Chromosome 20, 62073781: 62073781
19 KCNQ2 NM_172107.3(KCNQ2): c.794C> T (p.Ala265Val) single nucleotide variant Pathogenic rs587777219 GRCh38 Chromosome 20, 63442428: 63442428
20 KCNQ2 NM_172107.3(KCNQ2): c.1197delT (p.Ser399Argfs) deletion Pathogenic rs587780365 GRCh37 Chromosome 20, 62059740: 62059740
21 KCNQ2 NM_172107.3(KCNQ2): c.1197delT (p.Ser399Argfs) deletion Pathogenic rs587780365 GRCh38 Chromosome 20, 63428387: 63428387
22 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Conflicting interpretations of pathogenicity rs727503974 GRCh37 Chromosome 20, 62071057: 62071057
23 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Conflicting interpretations of pathogenicity rs727503974 GRCh38 Chromosome 20, 63439704: 63439704
24 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
25 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh38 Chromosome 20, 63442429: 63442429
26 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh37 Chromosome 20, 62073876: 62073877
27 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh38 Chromosome 20, 63442523: 63442524
28 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh38 Chromosome 20, 63439644: 63439644
29 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh37 Chromosome 20, 62070997: 62070997
30 KCNQ2 NM_172107.3(KCNQ2): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs796052623 GRCh37 Chromosome 20, 62076101: 62076101
31 KCNQ2 NM_172107.3(KCNQ2): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic rs796052623 GRCh38 Chromosome 20, 63444748: 63444748
32 KCNQ2 NM_172107.3(KCNQ2): c.431G> A (p.Arg144Gln) single nucleotide variant Pathogenic/Likely pathogenic rs796052618 GRCh37 Chromosome 20, 62076674: 62076674
33 KCNQ2 NM_172107.3(KCNQ2): c.431G> A (p.Arg144Gln) single nucleotide variant Pathogenic/Likely pathogenic rs796052618 GRCh38 Chromosome 20, 63445321: 63445321
34 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh37 Chromosome 20, 62070963: 62070965
35 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh38 Chromosome 20, 63439610: 63439612
36 KCNQ2 NM_172107.3(KCNQ2): c.704C> T (p.Ala235Val) single nucleotide variant Likely pathogenic rs797045638 GRCh38 Chromosome 20, 63442518: 63442518
37 KCNQ2 NM_172107.3(KCNQ2): c.704C> T (p.Ala235Val) single nucleotide variant Likely pathogenic rs797045638 GRCh37 Chromosome 20, 62073871: 62073871
38 KCNQ2 NM_172107.3(KCNQ2): c.841G> T (p.Gly281Trp) single nucleotide variant Pathogenic rs794727813 GRCh38 Chromosome 20, 63439684: 63439684
39 KCNQ2 NM_172107.3(KCNQ2): c.841G> T (p.Gly281Trp) single nucleotide variant Pathogenic rs794727813 GRCh37 Chromosome 20, 62071037: 62071037
40 KCNQ2 NM_172107.3(KCNQ2): c.2147C> T (p.Thr716Ile) single nucleotide variant Pathogenic rs864321711 GRCh38 Chromosome 20, 63407116: 63407116
41 KCNQ2 NM_172107.3(KCNQ2): c.2147C> T (p.Thr716Ile) single nucleotide variant Pathogenic rs864321711 GRCh37 Chromosome 20, 62038469: 62038469
42 KCNQ2 NM_172107.3(KCNQ2): c.943G> C (p.Gly315Arg) single nucleotide variant Pathogenic rs864321709 GRCh37 Chromosome 20, 62070058: 62070058
43 KCNQ2 NM_172107.3(KCNQ2): c.943G> C (p.Gly315Arg) single nucleotide variant Pathogenic rs864321709 GRCh38 Chromosome 20, 63438705: 63438705
44 KCNQ2 NM_172107.3(KCNQ2): c.917C> T (p.Ala306Val) single nucleotide variant Likely pathogenic rs864321707 GRCh38 Chromosome 20, 63439608: 63439608
45 KCNQ2 NM_172107.3(KCNQ2): c.917C> T (p.Ala306Val) single nucleotide variant Likely pathogenic rs864321707 GRCh37 Chromosome 20, 62070961: 62070961
46 KCNQ2 NM_172107.3(KCNQ2): c.850T> G (p.Tyr284Asp) single nucleotide variant Pathogenic rs864321706 GRCh37 Chromosome 20, 62071028: 62071028
47 KCNQ2 NM_172107.3(KCNQ2): c.850T> G (p.Tyr284Asp) single nucleotide variant Pathogenic rs864321706 GRCh38 Chromosome 20, 63439675: 63439675
48 KCNQ2 NM_172107.3(KCNQ2): c.803T> C (p.Leu268Pro) single nucleotide variant Pathogenic rs864321708 GRCh37 Chromosome 20, 62073772: 62073772
49 KCNQ2 NM_172107.3(KCNQ2): c.803T> C (p.Leu268Pro) single nucleotide variant Pathogenic rs864321708 GRCh38 Chromosome 20, 63442419: 63442419
50 KCNQ2 NM_172107.3(KCNQ2): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs864321710 GRCh38 Chromosome 20, 63445364: 63445364

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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62 PubMed
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