DEE7
MCID: DVL038
MIFTS: 46

Developmental and Epileptic Encephalopathy 7 (DEE7)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 7

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 7:

Name: Developmental and Epileptic Encephalopathy 7 57 12
Early Infantile Epileptic Encephalopathy 7 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 7 57 73 13
Kcnq2-Related Neonatal Epileptic Encephalopathy 12 58
Kcnq2-Related Epileptic Encephalopathy 12 58
Eiee7 57 73
Epileptic Encephalopathy, Early Infantile, 7; Eiee7 57
Encephalopathy, Epileptic, Early Infantile, Type 7 39
Ohtahara Syndrome 73
Kcnq2-Nee 58
Dee7 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation (in most patients)
onset in early infancy, often in the neonatal period
multiple seizures daily at onset
seizures are refractory to treatment
seizure frequency decreases during early childhood
most patients become seizure-free by age 3 or 4 years
variable intrafamilial severity


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Developmental and Epileptic Encephalopathy 7

OMIM® : 57 Developmental and epileptic encephalopathy-7 (DEE7) is a neurologic disorder characterized by the onset of refractory seizures in early infancy, often in the neonatal period. Affected individuals have resultant delayed neurologic development and persistent neurologic abnormalities. EEG initially shows a burst suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, which may later evolve to multifocal epileptiform activity. Brain imaging in some patients shows 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 Borgatti et al., 2004 and Weckhuysen et al., 2012). (613720) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 7, also known as early infantile epileptic encephalopathy 7, is related to kcnq2-related disorders and early infantile epileptic encephalopathy, and has symptoms including tonic seizures An important gene associated with Developmental and Epileptic Encephalopathy 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 globus pallidus and thalamus, and related phenotypes are intellectual disability and epileptic encephalopathy

Disease Ontology : 12 A developmental and 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 Developmental and Epileptic Encephalopathy 7

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 kcnq2-related disorders 32.3 KCNQ3 KCNQ2
2 early infantile epileptic encephalopathy 32.0 KCNT1 KCNQ3 KCNQ2
3 benign familial neonatal epilepsy 31.9 KCNQ3 KCNQ2 KCNB2
4 west syndrome 30.5 KCNT1 KCNQ3 KCNQ2
5 early myoclonic encephalopathy 30.4 KCNT1 KCNQ3 KCNQ2
6 lennox-gastaut syndrome 30.4 KCNT1 KCNQ3 KCNQ2
7 electroclinical syndrome 29.8 KCNT1 KCNQ3 KCNQ2
8 dravet syndrome 29.8 KCNT1 KCNQ3 KCNQ2
9 ohtahara syndrome 11.7
10 developmental and epileptic encephalopathy 1 11.3
11 developmental and epileptic encephalopathy 3 11.1
12 developmental and epileptic encephalopathy 4 11.0
13 developmental and epileptic encephalopathy 17 11.0
14 developmental and epileptic encephalopathy 30 11.0
15 hemimegalencephaly 10.3
16 seizures, benign familial neonatal, 2 10.2 KCNQ3 KCNQ2
17 epilepsy 10.2
18 convulsions benign familial neonatal dominant form 10.2 KCNQ3 KCNQ2
19 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.2 KCNQ3 KCNQ2
20 early onset absence epilepsy 10.2 KCNQ3 KCNQ2
21 encephalopathy 10.2
22 seizure disorder 10.2
23 epilepsy, nocturnal frontal lobe, 1 10.2 KCNQ3 KCNQ2
24 landau-kleffner syndrome 10.1 KCNT1 KCNQ2
25 eastern equine encephalitis 10.1 KCNQ3 KCNQ2
26 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
27 lissencephaly 10.1
28 microcephaly 10.1
29 polymicrogyria 10.1
30 stxbp1 encephalopathy with epilepsy 10.1
31 developmental and epileptic encephalopathy 9 10.1 KCNT1 KCNQ2
32 adolescence-adult electroclinical syndrome 10.1 KCNQ3 KCNQ2
33 photosensitive epilepsy 10.1 KCNQ3 KCNQ2
34 alacrima, achalasia, and mental retardation syndrome 10.0
35 focal epilepsy 10.0
36 pachygyria 10.0
37 myoclonus 10.0
38 episodic kinesigenic dyskinesia 1 10.0 KCNQ3 KCNQ2
39 infancy electroclinical syndrome 10.0 KCNT1 KCNQ3 KCNQ2
40 benign neonatal seizures 10.0 KCNT1 KCNQ3 KCNQ2
41 childhood electroclinical syndrome 10.0 KCNT1 KCNQ3 KCNQ2
42 episodic ataxia 10.0 KCNQ3 KCNQ2 KCNA10
43 neonatal period electroclinical syndrome 10.0 KCNT1 KCNQ3 KCNQ2
44 benign familial infantile epilepsy 10.0 KCNT1 KCNQ3 KCNQ2
45 generalized epilepsy with febrile seizures plus 10.0 KCNT1 KCNQ3 KCNQ2
46 epilepsy, idiopathic generalized 10.0 KCNT1 KCNQ3 KCNQ2
47 benign epilepsy with centrotemporal spikes 9.9 KCNT1 KCNQ3 KCNQ2
48 lipomatosis, multiple 9.9
49 proteus syndrome 9.9
50 macrocephaly/megalencephaly syndrome, autosomal recessive 9.9

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 7:



Diseases related to Developmental and Epileptic Encephalopathy 7

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 7

Human phenotypes related to Developmental and Epileptic Encephalopathy 7:

58 31 (show all 28)
# 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 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
6 apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002104
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 profound global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012736
9 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
10 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
11 cerebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0002181
12 facial erythema 58 31 frequent (33%) Frequent (79-30%) HP:0001041
13 abnormal globus pallidus morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002453
14 poor gross motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007015
15 hypotonia 31 frequent (33%) HP:0001252
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 muscular hypotonia 58 Frequent (79-30%)
23 spastic tetraparesis 31 HP:0001285
24 abnormality of the cerebral white matter 58 Very frequent (99-80%)
25 generalized hypotonia 31 HP:0001290
26 generalized tonic seizures 58 Very frequent (99-80%)
27 epileptic spasms 58 Frequent (79-30%)
28 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
dystonia
epileptic encephalopathy
hypotonia
mental retardation
delayed psychomotor development
more

Clinical features from OMIM®:

613720 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 7:


tonic seizures

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 INPP4A KCNA10 KCNB2 KCNQ2 KCNQ3 KCNS1

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 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

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy 7

Genetic Tests for Developmental and Epileptic Encephalopathy 7

Genetic tests related to Developmental and Epileptic Encephalopathy 7:

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

Anatomical Context for Developmental and Epileptic Encephalopathy 7

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 7:

40
Globus Pallidus, Thalamus

Publications for Developmental and Epileptic Encephalopathy 7

Articles related to Developmental and Epileptic Encephalopathy 7:

# Title Authors PMID Year
1
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 57 6
23621294 2013
2
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 6 57
22926866 2012
3
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 57 6
22275249 2012
4
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 6 57
15249611 2004
5
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 6 57
12742592 2003
6
KCNQ2-Neonatal Epileptic Encephalopathy Complicated by Ventricular Tachycardia: A Case Report. 61
32362866 2020
7
Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy. 61
28832002 2017
8
KCNQ2-Related Disorders 61
20437616 2010

Variations for Developmental and Epileptic Encephalopathy 7

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 7:

6 (show top 50) (show all 147)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ2 NM_172107.4(KCNQ2):c.803T>C (p.Leu268Pro) SNV Pathogenic 219236 rs864321708 20:62073772-62073772 20:63442419-63442419
2 KCNQ2 NM_172107.4(KCNQ2):c.2147C>T (p.Thr716Ile) SNV Pathogenic 219239 rs864321711 20:62038469-62038469 20:63407116-63407116
3 KCNQ2 NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp) SNV Pathogenic 219234 rs864321706 20:62071028-62071028 20:63439675-63439675
4 KCNQ2 NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) SNV Pathogenic 205869 rs796052623 20:62076101-62076101 20:63444748-63444748
5 KCNQ2 NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys) SNV Pathogenic 219238 rs864321710 20:62076717-62076717 20:63445364-63445364
6 KCNQ2 NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) SNV Pathogenic 219235 rs864321707 20:62070961-62070961 20:63439608-63439608
7 KCNQ2 NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg) SNV Pathogenic 219237 rs864321709 20:62070058-62070058 20:63438705-63438705
8 KCNQ2 NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) SNV Pathogenic 205886 20:62070997-62070997 20:63439644-63439644
9 KCNQ2 NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) SNV Pathogenic 279931 rs886041262 20:62076073-62076073 20:63444720-63444720
10 KCNQ2 NM_172107.4(KCNQ2):c.2425del (p.Gln809fs) Deletion Pathogenic 374272 rs1057518662 20:62038191-62038191 20:63406838-63406838
11 KCNQ2 NM_172107.4(KCNQ2):c.2296del (p.Leu766fs) Deletion Pathogenic 374390 rs1057518668 20:62038320-62038320 20:63406967-63406967
12 KCNQ2 NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) SNV Pathogenic 280614 rs886041262 20:62076073-62076073 20:63444720-63444720
13 KCNQ2 NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) SNV Pathogenic 431095 rs1131691936 20:62070976-62070976 20:63439623-63439623
14 KCNQ2 NM_172107.4(KCNQ2):c.1610_1615del (p.Lys537_Val538del) Deletion Pathogenic 433180 rs1555853977 20:62045457-62045462 20:63414104-63414109
15 KCNQ2 NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) SNV Pathogenic 7391 rs118192200 20:62076082-62076082 20:63444729-63444729
16 KCNQ2 NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) SNV Pathogenic 21809 rs118192215 20:62070004-62070004 20:63438651-63438651
17 KCNQ2 NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile) SNV Pathogenic 369742 rs1057516077 20:62078146-62078146 20:63446793-63446793
18 KCNQ2 NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter) SNV Pathogenic 369744 rs1057516079 20:62076634-62076634 20:63445281-63445281
19 KCNQ2 NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu) SNV Pathogenic 369748 rs1057516082 20:62076179-62076179 20:63444826-63444826
20 KCNQ2 NM_172107.4(KCNQ2):c.566G>T (p.Gly189Val) SNV Pathogenic 369751 rs1057516083 20:62076136-62076136 20:63444783-63444783
21 KCNQ2 NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro) SNV Pathogenic 205866 rs796052620 20:62076119-62076119 20:63444766-63444766
22 KCNQ2 NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) SNV Pathogenic 369753 rs1057516085 20:62076100-62076100 20:63444747-63444747
23 KCNQ2 NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro) SNV Pathogenic 369754 rs1057516086 20:62076094-62076094 20:63444741-63444741
24 KCNQ2 NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) SNV Pathogenic 369755 rs1057516087 20:62076089-62076089 20:63444736-63444736
25 KCNQ2 NM_172107.4(KCNQ2):c.643G>A (p.Gly215Arg) SNV Pathogenic 369756 rs1057516088 20:62076059-62076059 20:63444706-63444706
26 KCNQ2 NM_172107.4(KCNQ2):c.700A>C (p.Thr234Pro) SNV Pathogenic 369759 rs1057516091 20:62073875-62073875 20:63442522-63442522
27 KCNQ2 NM_172107.4(KCNQ2):c.715G>C (p.Gly239Arg) SNV Pathogenic 369760 rs1057516092 20:62073860-62073860 20:63442507-63442507
28 KCNQ2 NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr) SNV Pathogenic 369761 rs1057516093 20:62073818-62073818 20:63442465-63442465
29 KCNQ2 NM_172107.4(KCNQ2):c.793G>C (p.Ala265Pro) SNV Pathogenic 369762 rs794727740 20:62073782-62073782 20:63442429-63442429
30 KCNQ2 NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe) SNV Pathogenic 369763 rs1057516094 20:62073773-62073773 20:63442420-63442420
31 KCNQ2 NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile) SNV Pathogenic 369764 rs1057516095 20:62071051-62071051 20:63439698-63439698
32 KCNQ2 NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) SNV Pathogenic 369765 rs1057516096 20:62071043-62071043 20:63439690-63439690
33 KCNQ2 NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) SNV Pathogenic 198284 rs794727813 20:62071037-62071037 20:63439684-63439684
34 KCNQ2 NM_172107.4(KCNQ2):c.854C>A (p.Pro285His) SNV Pathogenic 369766 rs1057516097 20:62071024-62071024 20:63439671-63439671
35 KCNQ2 NM_172107.4(KCNQ2):c.860C>A (p.Thr287Asn) SNV Pathogenic 369767 rs727503973 20:62071018-62071018 20:63439665-63439665
36 KCNQ2 NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser) SNV Pathogenic 369768 rs1057516098 20:62071010-62071010 20:63439657-63439657
37 KCNQ2 NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro) SNV Pathogenic 369769 rs756921902 20:62070992-62070992 20:63439639-63439639
38 KCNQ2 NM_172107.4(KCNQ2):c.2127del (p.Val710fs) Deletion Pathogenic 7390 rs118192244 20:62038489-62038489 20:63407136-63407136
39 KCNQ2 NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val) SNV Pathogenic 39761 rs397515420 20:62044930-62044930 20:63413577-63413577
40 KCNQ2 NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp) SNV Pathogenic 39762 rs397514582 20:62071009-62071009 20:63439656-63439656
41 KCNQ2 NM_172107.4(KCNQ2):c.1197del (p.Ser399fs) Deletion Pathogenic 129331 rs587780365 20:62059740-62059740 20:63428387-63428387
42 KCNQ2 NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) SNV Pathogenic 197891 rs794727740 20:62073782-62073782 20:63442429-63442429
43 KCNQ2 NM_172107.4(KCNQ2):c.698_699insACC (p.Thr234_Ala235insPro) Insertion Pathogenic 202170 rs794729197 20:62073876-62073877 20:63442523-63442524
44 KCNQ2 NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser) SNV Pathogenic 369771 rs1057516100 20:62070967-62070967 20:63439614-63439614
45 KCNQ2 NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu) SNV Pathogenic 205887 rs775918190 20:62070963-62070963 20:63439610-63439610
46 KCNQ2 NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val) SNV Pathogenic 369772 20:62070952-62070952 20:63439599-63439599
47 KCNQ2 NM_172107.4(KCNQ2):c.973A>C (p.Arg325=) SNV Pathogenic 369774 rs1057516103 20:62070028-62070028 20:63438675-63438675
48 KCNQ2 NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly) SNV Pathogenic 369775 rs1057516103 20:62070028-62070028 20:63438675-63438675
49 KCNQ2 NM_172107.4(KCNQ2):c.1024-2A>G SNV Pathogenic 369776 rs1057516104 20:62065258-62065258 20:63433905-63433905
50 KCNQ2 NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His) SNV Pathogenic 205899 rs796052645 20:62065222-62065222 20:63433869-63433869

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 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 Developmental and Epileptic Encephalopathy 7

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 7.

Pathways for Developmental and Epileptic Encephalopathy 7

Pathways related to Developmental and Epileptic Encephalopathy 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNN1 KCNB2
2 11.91 KCNS1 KCNQ3 KCNQ2 KCNB2 KCNA10
3
Show member pathways
11.34 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNN1 KCNB2
4 11.09 KCNQ3 KCNQ2
5 10.73 KCNQ3 KCNQ2

GO Terms for Developmental and Epileptic Encephalopathy 7

Cellular components related to Developmental and Epileptic Encephalopathy 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 synapse GO:0045202 9.71 KCNQ3 KCNQ2 KCNN1 INPP4A
4 plasma membrane GO:0005886 9.61 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNN1
5 axon initial segment GO:0043194 9.26 KCNQ3 KCNQ2
6 voltage-gated potassium channel complex GO:0008076 9.17 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNN1 KCNB2
7 node of Ranvier GO:0033268 9.16 KCNQ3 KCNQ2

Biological processes related to Developmental and Epileptic Encephalopathy 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 KCNB2 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 KCNB2 KCNA10
4 protein homooligomerization GO:0051260 9.67 KCNV2 KCNS1 KCNB2 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 Developmental and Epileptic Encephalopathy 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.8 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNB2 KCNA10
2 voltage-gated ion channel activity GO:0005244 9.73 KCNV2 KCNS1 KCNQ3 KCNQ2 KCNB2 KCNA10
3 delayed rectifier potassium channel activity GO:0005251 9.55 KCNS1 KCNQ3 KCNQ2 KCNB2 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 KCNB2 KCNA10
6 potassium channel activity GO:0005267 9.17 KCNV2 KCNT1 KCNS1 KCNQ3 KCNQ2 KCNB2

Sources for Developmental and Epileptic Encephalopathy 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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