EIEE7
MCID: EPL068
MIFTS: 36

Epileptic Encephalopathy, Early Infantile, 7 (EIEE7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 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

NINDS : 54 Ohtahara syndrome is an uncommon type of epilepsy characterized by hard to control seizures and developmental delays.  The disorder affects infants, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (stiffening of the muscles, upward eye gaze, dilated pupils, and altered breathing), but may also experience focal seizures (involving only one area or side of the brain), and rarely, myoclonic seizures (involving sudden muscle jerks). Ohtahara syndrome is classically caused by very abnormal brain structure that may be due to damage or abnormal development.  It also can be due to metabolic disorders or genetic epilepsy syndromes, although the cause or causes for many cases can’t be determined. Recent studies suggest that there is often an identifiable genetic cause of Ohtahara syndrome. Electroencephalography recordings of brain activity of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage abnormal brain activity alternating with periods of very little activity.  This pattern is known as “burst suppression.”

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). Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are intellectual disability and seizures

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)

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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 21)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 12.2
2 benign familial neonatal epilepsy 11.4
3 kcnq2-related disorders 11.4
4 epileptic encephalopathy, early infantile, 1 11.3
5 encephalopathy 10.4
6 infantile epileptic encephalopathy 10.3
7 epileptic encephalopathy, early infantile, 3 10.2
8 epileptic encephalopathy, early infantile, 4 10.2
9 epilepsy 10.2
10 early myoclonic encephalopathy 10.2
11 hemimegalencephaly 10.2
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 pleomorphic lipoma 9.9
19 microcephaly 9.9
20 megalencephaly 9.9
21 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

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

Publications for Epileptic Encephalopathy, Early Infantile, 7

Articles related to Epileptic Encephalopathy, Early Infantile, 7:

# Title Authors Year
1
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
2
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
3
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
4
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
5
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 10080520 )
1999

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 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 205)
# 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.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.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
13 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh38 Chromosome 20, 63415086: 63415086
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.1197delT (p.Ser399Argfs) deletion Pathogenic rs587780365 GRCh37 Chromosome 20, 62059740: 62059740
27 KCNQ2 NM_172107.3(KCNQ2): c.1197delT (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 Conflicting interpretations of pathogenicity rs727503974 GRCh37 Chromosome 20, 62071057: 62071057
33 KCNQ2 NM_172107.3(KCNQ2): c.821C> T (p.Thr274Met) single nucleotide variant Conflicting interpretations of pathogenicity rs727503974 GRCh38 Chromosome 20, 63439704: 63439704
34 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
35 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh38 Chromosome 20, 63442429: 63442429
36 KCNQ2 NM_172107.3(KCNQ2): c.841G> A (p.Gly281Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794727813 GRCh37 Chromosome 20, 62071037: 62071037
37 KCNQ2 NM_172107.3(KCNQ2): c.841G> A (p.Gly281Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs794727813 GRCh38 Chromosome 20, 63439684: 63439684
38 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh37 Chromosome 20, 62073876: 62073877
39 KCNQ2 NM_172107.3(KCNQ2): c.698_699insACC (p.Val233_Thr234insPro) insertion Pathogenic rs794729197 GRCh38 Chromosome 20, 63442523: 63442524
40 KCNQ2 NM_172107.3(KCNQ2): c.2102_2104delTCT (p.Phe701del) deletion Uncertain significance rs758334927 GRCh37 Chromosome 20, 62038512: 62038514
41 KCNQ2 NM_172107.3(KCNQ2): c.2102_2104delTCT (p.Phe701del) deletion Uncertain significance rs758334927 GRCh38 Chromosome 20, 63407159: 63407161
42 KCNQ2 NM_172107.3(KCNQ2): c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 GRCh38 Chromosome 20, 63413478: 63413479
43 KCNQ2 NM_172107.3(KCNQ2): c.1734_1735delGCinsAA (p.Met578_Leu579delinsIleMet) indel Pathogenic rs796052665 GRCh37 Chromosome 20, 62044831: 62044832
44 KCNQ2 NM_172107.3(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 GRCh38 Chromosome 20, 63413479: 63413479
45 KCNQ2 NM_172107.3(KCNQ2): c.1734G> C (p.Met578Ile) single nucleotide variant Pathogenic rs796052655 GRCh37 Chromosome 20, 62044832: 62044832
46 KCNQ2 NM_172107.3(KCNQ2): c.1687G> A (p.Asp563Asn) single nucleotide variant Pathogenic rs796052653 GRCh38 Chromosome 20, 63413526: 63413526
47 KCNQ2 NM_172107.3(KCNQ2): c.1687G> A (p.Asp563Asn) single nucleotide variant Pathogenic rs796052653 GRCh37 Chromosome 20, 62044879: 62044879
48 KCNQ2 NM_172107.3(KCNQ2): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs796052652 GRCh38 Chromosome 20, 63413531: 63413531
49 KCNQ2 NM_172107.3(KCNQ2): c.1682C> T (p.Pro561Leu) single nucleotide variant Pathogenic rs796052652 GRCh37 Chromosome 20, 62044884: 62044884
50 KCNQ2 NM_172107.3(KCNQ2): c.1678C> T (p.Arg560Trp) single nucleotide variant Pathogenic rs773171451 GRCh38 Chromosome 20, 63413535: 63413535

Copy number variations for Epileptic Encephalopathy, Early Infantile, 7 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246802 9 125800000 132500000 Copy number STXBP1 Ohtahara syndrome

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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