DEE14
MCID: DVL042
MIFTS: 50

Developmental and Epileptic Encephalopathy 14 (DEE14)

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 14

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 14:

Name: Developmental and Epileptic Encephalopathy 14 57 12
Early Infantile Epileptic Encephalopathy 14 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 14 57 73 13
Eiee14 57 73
Dee14 57 12
Epileptic Encephalopathy, Early Infantile, 14; Eiee14 57
Encephalopathy, Epileptic, Early Infantile, Type 14 39
Malignant Migrating Partial Seizures of Infancy 73
Mmpsi 73

Characteristics:

OMIM®:

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

Miscellaneous:
progressive disorder
de novo mutation
seizures are refractory to treatment
onset of seizures in first 6 months of life
seizures become nearly continuous
normal development until onset of seizures
variable ictal semiology


HPO:

31
developmental and epileptic encephalopathy 14:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 14

OMIM® : 57 Developmental and epileptic encephalopathy-14 (DEE14) is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (614959) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 14, also known as early infantile epileptic encephalopathy 14, is related to malignant migrating partial seizures of infancy and seizure disorder, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Developmental and Epileptic Encephalopathy 14 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include eye, and related phenotypes are poor eye contact and spasticity

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has material basis in heterozygous mutation in the KCNT1 gene on chromosome 9q34.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 14: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another.

Related Diseases for Developmental and Epileptic Encephalopathy 14

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 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 malignant migrating partial seizures of infancy 32.2 SCN2A SCN1A KCNT1
2 seizure disorder 29.9 SCN8A SCN2A SCN1A MECP2 DEPDC5 CHRNA4
3 encephalopathy 29.5 SCN8A SCN2A SCN1A MECP2 KCNT1 CDKL5
4 autosomal dominant nocturnal frontal lobe epilepsy 29.1 SCN8A SCN2A SCN1A KCNT1 KCNA1 DEPDC5
5 early myoclonic encephalopathy 29.1 SCN8A SCN2A SCN1A MECP2 KCNT1 KCNA1
6 alacrima, achalasia, and mental retardation syndrome 28.8 SMARCA4 SMARCA2 SCN2A SCN1A MECP2 DEPDC5
7 dravet syndrome 28.3 SCN8A SCN5A SCN2A SCN1A MECP2 KCNT1
8 developmental and epileptic encephalopathy 12 10.9
9 slc12a5-related epilepsy of infancy with migrating focal seizures 10.5
10 status epilepticus 10.4
11 hereditary episodic ataxia 10.2 SCN2A KCNA1
12 nicolaides-baraitser syndrome 10.2 SMARCA2 CDKL5
13 myoclonic epilepsy of infancy 10.2 SCN8A SCN1A
14 developmental and epileptic encephalopathy 16 10.2
15 hypokalemia 10.2
16 kcnt1-related epilepsy 10.2
17 tbc1d24-related disorders 10.2
18 genetic epilepsy with febrile seizures plus 10.2 SCN2A SCN1A
19 febrile seizures, familial, 5 10.2 SCN2A SCN1A
20 gait apraxia 10.2 MECP2 CDKL5
21 febrile seizures, familial, 2 10.1 SCN2A SCN1A
22 juvenile absence epilepsy 10.1 SCN1A CHRNA4
23 alzheimer disease 9 10.1 SCN1A KCNA1
24 torsion dystonia 4 10.1 MECP2 KCNT1
25 developmental and epileptic encephalopathy 9 10.1 SCN1A KCNT1 CDKL5
26 gene duplication disease 10.1 MECP2 CDKL5
27 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1A KCNA1 CHRNA4
28 chromosome 16p11.2 deletion syndrome 10.1 KCNT1 DEPDC5
29 christianson syndrome 10.1 MECP2 CDKL5
30 reflex epilepsy 10.1 SCN2A SCN1A CHRNA4
31 febrile seizures, familial, 1 10.1 SCN2A SCN1A CHRNA4
32 febrile seizures 10.1 SCN8A SCN2A SCN1A
33 familial short qt syndrome 10.1 KCNQ1 KCNH2
34 adolescence-adult electroclinical syndrome 10.1 SCN2A SCN1A CHRNA4
35 epilepsy with generalized tonic-clonic seizures 10.0 SCN2A SCN1A CDKL5
36 developmental and epileptic encephalopathy 13 10.0 SCN8A SCN2A SCN1A
37 low-grade astrocytoma 10.0 SCN8A SCN2A SCN1A
38 trigeminal nerve disease 10.0 SCN8A SCN2A SCN1A
39 familial febrile seizures 10.0 SCN2A SCN1A CHRNA4
40 generalized epilepsy with febrile seizures plus, type 7 10.0 SCN8A SCN1A
41 trigeminal neuralgia 10.0 SCN8A SCN1A
42 familial periodic paralysis 10.0 SCN5A SCN2A
43 migraine with aura 10.0 SCN2A SCN1A KCNA1
44 first-degree atrioventricular block 10.0 SCN5A KCNH2
45 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.0 SCN1A MECP2 CDKL5
46 smarca4-deficient sarcoma of thorax 10.0 SMARCA4 SMARCA2
47 developmental and epileptic encephalopathy 10.0 SCN8A SCN1A CHRNA4 CDKL5
48 basan syndrome 9.9 SMARCA4 SMARCA2
49 third-degree atrioventricular block 9.9 SCN5A KCNH2
50 juvenile type testicular granulosa cell tumor 9.9 SMARCA4 SMARCA2

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 14:



Diseases related to Developmental and Epileptic Encephalopathy 14

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 14

Human phenotypes related to Developmental and Epileptic Encephalopathy 14:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 poor eye contact 31 occasional (7.5%) HP:0000817
2 spasticity 31 HP:0001257
3 clonus 31 HP:0002169
4 tetraplegia 31 HP:0002445
5 developmental regression 31 HP:0002376
6 microcephaly 31 HP:0000252
7 cerebral cortical atrophy 31 HP:0002120
8 hypoplasia of the corpus callosum 31 HP:0002079
9 status epilepticus 31 HP:0002133
10 generalized hypotonia 31 HP:0001290
11 epileptic encephalopathy 31 HP:0200134
12 neuronal loss in central nervous system 31 HP:0002529
13 delayed myelination 31 HP:0012448
14 gliosis 31 HP:0002171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
clonus
status epilepticus
hypotonia
spasticity of the lower limbs
more
Muscle Soft Tissue:
hypotonia

Head And Neck Face:
facial twitching

Head And Neck Head:
microcephaly

Head And Neck Eyes:
staring
eye deviation
poor eye contact (in some patients)

Clinical features from OMIM®:

614959 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 14:


clonus, twitching of facial muscles

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.11 CDKL5 CHRNA4 DEPDC5 KCNA1 KCNQ1 KCNT1
2 growth/size/body region MP:0005378 10.06 DEPDC5 KCNA1 KCNH2 KCNQ1 MECP2 SCN1A
3 mortality/aging MP:0010768 10 CHRNA4 DEPDC5 KCNA1 KCNH2 MECP2 SCN1A
4 nervous system MP:0003631 9.73 CDKL5 CHRNA4 DEPDC5 KCNA1 KCNQ1 KCNT1
5 muscle MP:0005369 9.7 KCNA1 KCNH2 KCNQ1 SCN5A SCN8A SMARCA2
6 respiratory system MP:0005388 9.1 MECP2 SCN1A SCN2A SCN5A SCN8A SMARCA4

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 14

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 14

Genetic Tests for Developmental and Epileptic Encephalopathy 14

Genetic tests related to Developmental and Epileptic Encephalopathy 14:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 14 29 KCNT1

Anatomical Context for Developmental and Epileptic Encephalopathy 14

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 14:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 14

Articles related to Developmental and Epileptic Encephalopathy 14:

(show all 19)
# Title Authors PMID Year
1
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 61 6 57
23086397 2012
2
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 57 6
24120652 2014
3
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 57 6
24029078 2013
4
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. 57 61
22197566 2012
5
Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. 57
15816952 2005
6
Migrating partial seizures in infancy: two new cases. 57
11108504 2000
7
Migrating partial seizures in infancy: a malignant disorder with developmental arrest. 57
7555952 1995
8
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures. 61
29037447 2018
9
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy. 61
26784557 2016
10
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 61
24888894 2014
11
Lack of pathogenic mutations in six patients with MMPSI. 61
24315024 2014
12
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 61
23526554 2013
13
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. 61
23278465 2013
14
Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam. 61
22521903 2013
15
Malignant migrating partial seizures in infancy. 61
23622207 2013
16
[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 61
23612406 2013
17
Design of nateglinide controlled release tablet containing erosion matrix tablet and multiple administration study in normal beagle dogs. 61
19721250 2009
18
A novel nonpeptidic caspase-3/7 inhibitor, (S)-(+)-5-[1-(2-methoxymethylpyrrolidinyl)sulfonyl]isatin reduces myocardial ischemic injury. 61
12450570 2002
19
Successful control with bromide of two patients with malignant migrating partial seizures in infancy. 61
10761836 2000

Variations for Developmental and Epileptic Encephalopathy 14

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 14:

6 (show top 50) (show all 513)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNT1 NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) SNV Pathogenic 39596 rs370521183 9:138667192-138667192 9:135775346-135775346
2 KCNT1 NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) SNV Pathogenic 92165 rs886044717 9:138671269-138671269 9:135779423-135779423
3 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 9:138651532-138651532 9:135759686-135759686
4 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 9:138657552-138657552 9:135765706-135765706
5 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 9:138671275-138671275 9:135779429-135779429
6 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) SNV Pathogenic 412308 rs1060503696 9:138670626-138670626 9:135778780-135778780
7 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) SNV Pathogenic 473378 rs886043455 9:138675877-138675877 9:135784031-135784031
8 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic 39595 9:138660694-138660694 9:135768848-135768848
9 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 9:138675877-138675877 9:135784031-135784031
10 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 9:138651532-138651532 9:135759686-135759686
11 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 9:138671275-138671275 9:135779429-135779429
12 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 9:138657552-138657552 9:135765706-135765706
13 KCNT1 NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) SNV Pathogenic 265210 rs866242631 9:138660693-138660693 9:135768847-135768847
14 KCNT1 NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) SNV Pathogenic 655949 rs1588385233 9:138670656-138670656 9:135778810-135778810
15 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 9:138675877-138675877 9:135784031-135784031
16 KCNT1 NM_020822.3(KCNT1):c.2943+1G>C SNV Pathogenic 853172 9:138675972-138675972 9:135784126-135784126
17 KCNT1 NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) SNV Pathogenic 853550 9:138656879-138656879 9:135765033-135765033
18 KCNT1 NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) SNV Pathogenic 432096 rs1554771469 9:138650285-138650285 9:135758439-135758439
19 KCNT1 NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) SNV Pathogenic 280499 rs886041691 9:138661828-138661828 9:135769982-135769982
20 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 9:138657034-138657034 9:135765188-135765188
21 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 9:138657034-138657034 9:135765188-135765188
22 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) SNV Pathogenic 39598 rs397515406 9:138669220-138669220 9:135777374-135777374
23 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) SNV Pathogenic 39597 rs397515405 9:138671257-138671257 9:135779411-135779411
24 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic/Likely pathogenic 39595 9:138660694-138660694 9:135768848-135768848
25 KCNT1 NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) SNV Likely pathogenic 496671 rs1554774322 9:138660679-138660679 9:135768833-135768833
26 KCNT1 NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) SNV Likely pathogenic 129360 rs200694691 9:138675910-138675910 9:135784064-135784064
27 KCNT1 NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln) SNV Likely pathogenic 870208 9:138662818-138662818 9:135770972-135770972
28 KCNT1 NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg) SNV Likely pathogenic 929407 9:138651686-138651686 9:135759840-135759840
29 KCNT1 NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) SNV Likely pathogenic 662662 rs1588344733 9:138657494-138657494 9:135765648-135765648
30 KCNT1 NM_020822.3(KCNT1):c.2686A>G (p.Met896Val) SNV Likely pathogenic 813753 9:138670625-138670625 9:135778779-135778779
31 KCNT1 NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val) SNV Likely pathogenic 813756 9:138667253-138667253 9:135775407-135775407
32 KCNT1 NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val) SNV Likely pathogenic 813759 9:138670617-138670617 9:135778771-135778771
33 KCNT1 NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp) SNV Likely pathogenic 802536 rs1193627908 9:138678203-138678203 9:135786357-135786357
34 KCNT1 NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp) SNV Likely pathogenic 937909 9:138594177-138594177 9:135702331-135702331
35 KCNT1 NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu) SNV Likely pathogenic 948652 9:138656879-138656879 9:135765033-135765033
36 KCNT1 NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) SNV Conflicting interpretations of pathogenicity 193922 rs146070496 9:138651559-138651559 9:135759713-135759713
37 KCNT1 NM_020822.3(KCNT1):c.2595-9C>T SNV Conflicting interpretations of pathogenicity 385486 rs369966222 9:138670525-138670525 9:135778679-135778679
38 KCNT1 NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) SNV Conflicting interpretations of pathogenicity 389450 rs752514808 9:138656907-138656907 9:135765061-135765061
39 KCNT1 NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) SNV Uncertain significance 642169 rs375749415 9:138676731-138676731 9:135784885-135784885
40 KCNT1 NM_020822.3(KCNT1):c.110+1G>C SNV Uncertain significance 642324 rs780331569 9:138594215-138594215 9:135702369-135702369
41 KCNT1 NM_020822.3(KCNT1):c.2888C>T (p.Pro963Leu) SNV Uncertain significance 642999 rs997774104 9:138675916-138675916 9:135784070-135784070
42 KCNT1 NM_020822.3(KCNT1):c.3460A>C (p.Lys1154Gln) SNV Uncertain significance 643691 rs750176430 9:138678325-138678325 9:135786479-135786479
43 KCNT1 NM_020822.3(KCNT1):c.3286G>A (p.Gly1096Ser) SNV Uncertain significance 643923 rs748115007 9:138678151-138678151 9:135786305-135786305
44 KCNT1 NM_020822.3(KCNT1):c.3078C>G (p.Phe1026Leu) SNV Uncertain significance 644031 rs1588401995 9:138676657-138676657 9:135784811-135784811
45 KCNT1 NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) SNV Uncertain significance 548573 rs373365707 9:138676638-138676638 9:135784792-135784792
46 KCNT1 NM_020822.3(KCNT1):c.1652G>A (p.Arg551His) SNV Uncertain significance 646949 rs567764094 9:138662176-138662176 9:135770330-135770330
47 KCNT1 NM_020822.3(KCNT1):c.211C>T (p.Arg71Trp) SNV Uncertain significance 647099 rs755348603 9:138606523-138606523 9:135714677-135714677
48 KCNT1 NM_020822.3(KCNT1):c.398G>A (p.Arg133His) SNV Uncertain significance 648163 rs201295824 9:138642851-138642851 9:135751005-135751005
49 KCNT1 NM_020822.3(KCNT1):c.3244C>T (p.Arg1082Cys) SNV Uncertain significance 648535 rs776232246 9:138678109-138678109 9:135786263-135786263
50 KCNT1 NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro) SNV Uncertain significance 626126 rs917893164 9:138678112-138678112 9:135786266-135786266

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 14:

73
# Symbol AA change Variation ID SNP ID
1 KCNT1 p.Arg409Gln VAR_069312 rs397515402
2 KCNT1 p.Arg455His VAR_069313 rs397515404
3 KCNT1 p.Ile741Met VAR_069314 rs370521183
4 KCNT1 p.Ala915Thr VAR_069318 rs397515403
5 KCNT1 p.Met497Val VAR_078214 rs886041691
6 KCNT1 p.Lys928Glu VAR_078215 rs105751954
7 KCNT1 p.Gly269Ser VAR_078683 rs587777264
8 KCNT1 p.Ala947Thr VAR_078685 rs142478877

Expression for Developmental and Epileptic Encephalopathy 14

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 14.

Pathways for Developmental and Epileptic Encephalopathy 14

Pathways related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
2
Show member pathways
12.39 SCN8A SCN5A SCN2A SCN1A KCNT1
3 12.3 SCN8A SCN5A SCN2A SCN1A MECP2
4
Show member pathways
11.8 KCNQ1 KCNH2 KCNA1
5 11.76 SCN5A MECP2 KCNQ1 KCNH2 CHRNA4
6
Show member pathways
11.72 SCN8A SCN5A SCN2A SCN1A
7 11.36 SCN5A KCNQ1 KCNH2
8
Show member pathways
10.9 SCN8A SCN5A SCN2A SCN1A KCNQ1
9 10.73 SCN8A SCN5A SCN2A SCN1A

GO Terms for Developmental and Epileptic Encephalopathy 14

Cellular components related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.24 SCN8A SCN5A SCN2A SCN1A KCNT1 KCNQ1
2 axon GO:0030424 9.83 SCN8A SCN2A SCN1A KCNA1
3 Z disc GO:0030018 9.67 SCN8A SCN5A SCN1A
4 voltage-gated potassium channel complex GO:0008076 9.54 KCNQ1 KCNH2 KCNA1
5 SWI/SNF complex GO:0016514 9.51 SMARCA4 SMARCA2
6 axon initial segment GO:0043194 9.48 SCN8A SCN1A
7 nBAF complex GO:0071565 9.46 SMARCA4 SMARCA2
8 npBAF complex GO:0071564 9.43 SMARCA4 SMARCA2
9 intercalated disc GO:0014704 9.43 SCN5A SCN2A SCN1A
10 paranode region of axon GO:0033270 9.4 SCN2A KCNA1
11 T-tubule GO:0030315 9.33 SCN5A SCN2A SCN1A
12 sodium channel complex GO:0034706 9.32 SCN2A SCN1A
13 node of Ranvier GO:0033268 9.13 SCN8A SCN2A SCN1A
14 voltage-gated sodium channel complex GO:0001518 8.92 SCN8A SCN5A SCN2A SCN1A

Biological processes related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
2 ion transport GO:0006811 9.91 SCN8A SCN5A SCN2A SCN1A KCNT1 KCNQ1
3 potassium ion transport GO:0006813 9.84 KCNT1 KCNQ1 KCNH2 KCNA1
4 potassium ion transmembrane transport GO:0071805 9.83 KCNT1 KCNQ1 KCNH2 KCNA1
5 sodium ion transport GO:0006814 9.81 SCN8A SCN5A SCN2A SCN1A
6 regulation of membrane potential GO:0042391 9.8 SCN1A KCNH2 KCNA1 CHRNA4
7 ion transmembrane transport GO:0034220 9.8 SCN8A SCN5A SCN2A SCN1A KCNH2 CHRNA4
8 sodium ion transmembrane transport GO:0035725 9.78 SCN8A SCN5A SCN2A SCN1A
9 cardiac conduction GO:0061337 9.74 SCN5A KCNQ1 KCNH2
10 cardiac muscle contraction GO:0060048 9.73 SCN5A KCNQ1 KCNH2
11 regulation of heart rate by cardiac conduction GO:0086091 9.72 SCN5A KCNQ1 KCNH2
12 cation transmembrane transport GO:0098655 9.71 SCN8A SCN5A SCN2A SCN1A
13 neuromuscular process GO:0050905 9.66 MECP2 KCNA1
14 membrane depolarization GO:0051899 9.66 SCN5A CHRNA4
15 action potential GO:0001508 9.65 SCN1A CHRNA4
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.65 SCN5A SCN1A
17 potassium ion export across plasma membrane GO:0097623 9.65 KCNQ1 KCNH2
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.64 KCNQ1 KCNH2
19 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.64 SCN1A KCNA1
20 regulation of gene expression by genetic imprinting GO:0006349 9.63 MECP2 KCNQ1
21 startle response GO:0001964 9.63 MECP2 KCNA1
22 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.63 SCN5A KCNQ1 KCNH2
23 neuromuscular process controlling posture GO:0050884 9.62 SCN1A MECP2
24 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.62 KCNQ1 KCNH2
25 membrane repolarization GO:0086009 9.61 KCNQ1 KCNH2
26 regulation of membrane repolarization GO:0060306 9.61 KCNQ1 KCNH2
27 ventricular cardiac muscle cell action potential GO:0086005 9.61 SCN5A KCNQ1 KCNH2
28 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.6 KCNQ1 KCNH2
29 atrial cardiac muscle cell action potential GO:0086014 9.59 SCN5A KCNQ1
30 membrane repolarization during action potential GO:0086011 9.58 KCNQ1 KCNH2
31 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.58 SCN5A KCNQ1
32 neuronal action potential GO:0019228 9.55 SCN8A SCN5A SCN2A SCN1A KCNA1
33 regulation of ion transmembrane transport GO:0034765 9.5 SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
34 membrane depolarization during action potential GO:0086010 9.02 SCN8A SCN5A SCN2A SCN1A KCNH2

Molecular functions related to Developmental and Epileptic Encephalopathy 14 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.67 KCNT1 KCNQ1 KCNH2 KCNA1
2 voltage-gated potassium channel activity GO:0005249 9.63 KCNQ1 KCNH2 KCNA1
3 cation channel activity GO:0005261 9.62 SCN8A SCN5A SCN2A SCN1A
4 scaffold protein binding GO:0097110 9.61 SCN5A KCNQ1 KCNH2
5 delayed rectifier potassium channel activity GO:0005251 9.58 KCNQ1 KCNH2 KCNA1
6 sodium channel activity GO:0005272 9.56 SCN8A SCN5A SCN2A SCN1A
7 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.52 KCNQ1 KCNH2
8 outward rectifier potassium channel activity GO:0015271 9.51 KCNT1 KCNQ1
9 voltage-gated ion channel activity GO:0005244 9.5 SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
10 hydrolase activity, acting on acid anhydrides GO:0016817 9.49 SMARCA4 SMARCA2
11 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.48 KCNQ1 KCNH2
12 voltage-gated sodium channel activity GO:0005248 9.46 SCN8A SCN5A SCN2A SCN1A
13 ion channel activity GO:0005216 9.23 SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2

Sources for Developmental and Epileptic Encephalopathy 14

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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