EIEE14
MCID: EPL097
MIFTS: 52

Epileptic Encephalopathy, Early Infantile, 14 (EIEE14)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 14

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 14:

Name: Epileptic Encephalopathy, Early Infantile, 14 56 73 13 71
Early Infantile Epileptic Encephalopathy 14 12 29 6 15
Eiee14 56 73
Encephalopathy, Epileptic, Early Infantile, Type 14 39
Malignant Migrating Partial Seizures of Infancy 73
Mmpsi 73

Characteristics:

OMIM:

56
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
epileptic encephalopathy, early infantile, 14:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 14

OMIM : 56 Early infantile epileptic encephalopathy-14 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 EIEE, see EIEE1 (308350). (614959)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 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. The drugs Dronabinol and Epidiolex have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are poor eye contact and microcephaly

Disease Ontology : 12 An early infantile 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 Epileptic Encephalopathy, Early Infantile, 14

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 malignant migrating partial seizures of infancy 32.6 SCN2A SCN1A KCNT1
2 seizure disorder 31.0 SCN2A SCN1A
3 encephalopathy 30.3 SCN1A MECP2 CDKL5
4 autosomal dominant nocturnal frontal lobe epilepsy 29.6 SCN2A SCN1A KCNT1 KCNA1 DEPDC5 CHRNA4
5 visual epilepsy 29.3 SCN8A SCN2A SCN1A MECP2 DEPDC5 CHRNA4
6 early myoclonic encephalopathy 29.3 SCN8A SCN2A SCN1A KCNT1 CHRNA4 CDKL5
7 epileptic encephalopathy, early infantile, 6 27.3 SCN8A SCN5A SCN2A SCN1A MECP2 KCNT1
8 slc12a5-related epilepsy of infancy with migrating focal seizures 10.4
9 nicolaides-baraitser syndrome 10.3 SMARCA2 CDKL5
10 hereditary episodic ataxia 10.3 SCN2A KCNA1
11 status epilepticus 10.3
12 myoclonic epilepsy of infancy 10.3 SCN8A SCN1A
13 reflex epilepsy 10.2 SCN1A CHRNA4
14 genetic epilepsy with febrile seizures plus 10.2 SCN2A SCN1A
15 gait apraxia 10.2 MECP2 CDKL5
16 neuropathy, hereditary sensory and autonomic, type vii 10.2 SCN2A SCN1A
17 episodic pain syndrome, familial, 2 10.2 SCN2A SCN1A
18 febrile seizures, familial, 5 10.2 SCN2A SCN1A
19 epileptic encephalopathy, early infantile, 9 10.1 SCN1A KCNT1 CDKL5
20 febrile seizures, familial, 2 10.1 SCN2A SCN1A
21 juvenile absence epilepsy 10.1 SCN1A CHRNA4
22 trigeminal nerve disease 10.1 SCN8A SCN1A
23 christianson syndrome 10.1 MECP2 CDKL5
24 epilepsy, nocturnal frontal lobe, 1 10.1 SCN1A KCNA1 CHRNA4
25 early onset absence epilepsy 10.1 SCN2A SCN1A DEPDC5
26 epileptic encephalopathy, early infantile, 16 10.1
27 alacrima, achalasia, and mental retardation syndrome 10.1
28 hypokalemia 10.1
29 kcnt1-related epilepsy 10.1
30 tbc1d24-related disorders 10.1
31 familial short qt syndrome 10.1 KCNQ1 KCNH2
32 epilepsy with generalized tonic-clonic seizures 10.1 SCN2A SCN1A CDKL5
33 febrile seizures 10.0 SCN8A SCN2A SCN1A
34 febrile seizures, familial, 1 10.0 SCN2A SCN1A CHRNA4
35 adolescence-adult electroclinical syndrome 10.0 SCN2A SCN1A CHRNA4
36 alzheimer disease 9 10.0 SCN1A KCNA1
37 low-grade astrocytoma 10.0 SCN8A SCN2A SCN1A
38 lubs x-linked mental retardation syndrome 10.0 MECP2 CDKL5
39 familial febrile seizures 10.0 SCN2A SCN1A CHRNA4
40 spinocerebellar ataxia 6 9.9 SCN1A KCNA1
41 encephalopathy due to defective mitochondrial and peroxisomal fission 1 9.9 SCN1A MECP2 CDKL5
42 smarca4-deficient sarcoma of thorax 9.9 SMARCA4 SMARCA2
43 familial periodic paralysis 9.9 SCN5A SCN2A
44 brugada syndrome 1 9.9 SCN5A KCNH2
45 juvenile type testicular granulosa cell tumor 9.9 SMARCA4 SMARCA2
46 testicular granulosa cell tumor 9.9 SMARCA4 SMARCA2
47 third-degree atrioventricular block 9.9 SCN5A KCNH2
48 enamel erosion 9.9 SMARCA4 SMARCA2
49 long qt syndrome 10 9.9 SCN5A KCNQ1
50 episodic ataxia, type 1 9.9 SCN1A KCNA1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 14:



Diseases related to Epileptic Encephalopathy, Early Infantile, 14

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 14

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 14:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 poor eye contact 31 occasional (7.5%) HP:0000817
2 microcephaly 31 HP:0000252
3 developmental regression 31 HP:0002376
4 spasticity 31 HP:0001257
5 cerebral cortical atrophy 31 HP:0002120
6 clonus 31 HP:0002169
7 hypoplasia of the corpus callosum 31 HP:0002079
8 status epilepticus 31 HP:0002133
9 generalized hypotonia 31 HP:0001290
10 tetraplegia 31 HP:0002445
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:

56
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
facial twitching

Neurologic Central Nervous System:
hyperreflexia
clonus
status epilepticus
hypotonia
spasticity of the lower limbs
more
Head And Neck Eyes:
staring
eye deviation
poor eye contact (in some patients)

Clinical features from OMIM:

614959

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 14:


clonus, twitching of facial muscles

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 14:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 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 cardiovascular system MP:0005385 9.97 KCNA1 KCNH2 KCNQ1 MECP2 SCN1A SCN5A
5 nervous system MP:0003631 9.73 CDKL5 CHRNA4 DEPDC5 KCNA1 KCNQ1 KCNT1
6 muscle MP:0005369 9.7 KCNA1 KCNH2 KCNQ1 SCN5A SCN8A SMARCA2
7 respiratory system MP:0005388 9.1 MECP2 SCN1A SCN2A SCN5A SCN8A SMARCA4

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 14

Drugs for Epileptic Encephalopathy, Early Infantile, 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
2 Epidiolex Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cannabidiol in Children With Refractory Epileptic Encephalopathy: A Phase 1 Open Label Dose Escalation Study (CARE-E) Active, not recruiting NCT03024827 Phase 1 CanniMed® 1:20

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 14

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 14

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 14:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 14

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 14:

40
Brain, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 14

Articles related to Epileptic Encephalopathy, Early Infantile, 14:

(show all 22)
# Title Authors PMID Year
1
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 56 6 61
23086397 2012
2
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 6 56
24120652 2014
3
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 56 6
24029078 2013
4
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. 56 61
22197566 2012
5
KCNT1-Related Epilepsy 6
30234941 2018
6
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
7
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
8
Migrating partial seizures in infancy: expanding the phenotype of a rare seizure syndrome. 56
15816952 2005
9
Migrating partial seizures in infancy: two new cases. 56
11108504 2000
10
Migrating partial seizures in infancy: a malignant disorder with developmental arrest. 56
7555952 1995
11
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures. 61
29037447 2018
12
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy. 61
26784557 2016
13
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 61
24888894 2014
14
Lack of pathogenic mutations in six patients with MMPSI. 61
24315024 2014
15
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 61
23526554 2013
16
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. 61
23278465 2013
17
Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam. 61
22521903 2013
18
Malignant migrating partial seizures in infancy. 61
23622207 2013
19
[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 61
23612406 2013
20
Design of nateglinide controlled release tablet containing erosion matrix tablet and multiple administration study in normal beagle dogs. 61
19721250 2009
21
A novel nonpeptidic caspase-3/7 inhibitor, (S)-(+)-5-[1-(2-methoxymethylpyrrolidinyl)sulfonyl]isatin reduces myocardial ischemic injury. 61
12450570 2002
22
Successful control with bromide of two patients with malignant migrating partial seizures in infancy. 61
10761836 2000

Variations for Epileptic Encephalopathy, Early Infantile, 14

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 14:

6 (show top 50) (show all 441) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg)SNV Pathogenic 412308 rs1060503696 9:138670626-138670626 9:135778780-135778780
2 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu)SNV Pathogenic 473378 rs886043455 9:138675877-138675877 9:135784031-135784031
3 KCNT1 NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu)SNV Pathogenic 853550 9:138656879-138656879 9:135765033-135765033
4 KCNT1 NM_020822.3(KCNT1):c.2943+1G>CSNV Pathogenic 853172 9:138675972-138675972 9:135784126-135784126
5 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)SNV Pathogenic 39593 rs397515402 9:138657552-138657552 9:135765706-135765706
6 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)SNV Pathogenic 39594 rs397515403 9:138671275-138671275 9:135779429-135779429
7 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)SNV Pathogenic 39597 rs397515405 9:138671257-138671257 9:135779411-135779411
8 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)SNV Pathogenic 39598 rs397515406 9:138669220-138669220 9:135777374-135777374
9 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)SNV Pathogenic 39599 rs397515407 9:138657034-138657034 9:135765188-135765188
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.1420C>T (p.Arg474Cys)SNV Pathogenic 265210 rs866242631 9:138660693-138660693 9:135768847-135768847
12 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)SNV Pathogenic/Likely pathogenic 39595 rs397515404 9:138660694-138660694 9:135768848-135768848
13 KCNT1 NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)SNV Pathogenic/Likely pathogenic 39596 rs370521183 9:138667192-138667192 9:135775346-135775346
14 KCNT1 NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln)SNV Pathogenic/Likely pathogenic 432096 rs1554771469 9:138650285-138650285 9:135758439-135758439
15 KCNT1 NM_020822.3(KCNT1):c.1406A>T (p.His469Leu)SNV Likely pathogenic 496671 rs1554774322 9:138660679-138660679 9:135768833-135768833
16 KCNT1 NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)SNV Likely pathogenic 802536 9:138678203-138678203 9:135786357-135786357
17 KCNT1 NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln)SNV Likely pathogenic 870208 9:138662818-138662818 9:135770972-135770972
18 KCNT1 NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)SNV Likely pathogenic 813756 9:138667253-138667253 9:135775407-135775407
19 KCNT1 NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)SNV Likely pathogenic 813759 9:138670617-138670617 9:135778771-135778771
20 KCNT1 NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)SNV Likely pathogenic 813753 9:138670625-138670625 9:135778779-135778779
21 KCNT1 NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)SNV Conflicting interpretations of pathogenicity 662662 9:138657494-138657494 9:135765648-135765648
22 KCNT1 NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)SNV Conflicting interpretations of pathogenicity 582792 rs553389226 9:138678061-138678061 9:135786215-135786215
23 KCNT1 NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)SNV Conflicting interpretations of pathogenicity 575241 rs1424788778 9:138675924-138675924 9:135784078-135784078
24 KCNT1 NM_020822.3(KCNT1):c.3320G>A (p.Arg1107His)SNV Conflicting interpretations of pathogenicity 590183 rs756256138 9:138678185-138678185 9:135786339-135786339
25 KCNT1 NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)SNV Conflicting interpretations of pathogenicity 595530 rs141695705 9:138676651-138676651 9:135784805-135784805
26 KCNT1 NM_020822.3(KCNT1):c.3096C>T (p.Ser1032=)SNV Conflicting interpretations of pathogenicity 497985 rs1360446142 9:138676675-138676675 9:135784829-135784829
27 KCNT1 NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)SNV Conflicting interpretations of pathogenicity 502633 rs140367649 9:138656951-138656951 9:135765105-135765105
28 KCNT1 NM_020822.3(KCNT1):c.2594+6G>ASNV Conflicting interpretations of pathogenicity 507504 rs973179248 9:138670347-138670347 9:135778501-135778501
29 KCNT1 NM_020822.3(KCNT1):c.981G>A (p.Ser327=)SNV Conflicting interpretations of pathogenicity 511651 rs373317695 9:138651651-138651651 9:135759805-135759805
30 KCNT1 NM_020822.3(KCNT1):c.1694G>A (p.Arg565His)SNV Conflicting interpretations of pathogenicity 508726 rs769855266 9:138662218-138662218 9:135770372-135770372
31 KCNT1 NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)SNV Conflicting interpretations of pathogenicity 548573 rs373365707 9:138676638-138676638 9:135784792-135784792
32 KCNT1 NM_020822.3(KCNT1):c.3689G>A (p.Arg1230His)SNV Conflicting interpretations of pathogenicity 449722 rs776538404 9:138683988-138683988 9:135792142-135792142
33 KCNT1 NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)SNV Conflicting interpretations of pathogenicity 473384 rs373041291 9:138678146-138678146 9:135786300-135786300
34 KCNT1 NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr)SNV Conflicting interpretations of pathogenicity 412318 rs779961735 9:138676679-138676679 9:135784833-135784833
35 KCNT1 NM_020822.3(KCNT1):c.1511-4G>ASNV Conflicting interpretations of pathogenicity 417217 rs368480443 9:138661789-138661789 9:135769943-135769943
36 KCNT1 NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val)SNV Conflicting interpretations of pathogenicity 412314 rs777479133 9:138667233-138667233 9:135775387-135775387
37 KCNT1 NM_020822.3(KCNT1):c.2594+7C>TSNV Conflicting interpretations of pathogenicity 417213 rs545094921 9:138670348-138670348 9:135778502-135778502
38 KCNT1 NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=)SNV Conflicting interpretations of pathogenicity 417218 rs141802876 9:138676732-138676732 9:135784886-135784886
39 KCNT1 NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)SNV Conflicting interpretations of pathogenicity 418274 rs575162600 9:138662242-138662242 9:135770396-135770396
40 KCNT1 NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)SNV Conflicting interpretations of pathogenicity 417209 rs1060505000 9:138664582-138664582 9:135772736-135772736
41 KCNT1 NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)SNV Conflicting interpretations of pathogenicity 425468 rs144118960 9:138664775-138664775 9:135772929-135772929
42 KCNT1 NM_020822.3(KCNT1):c.3501C>T (p.Tyr1167=)SNV Conflicting interpretations of pathogenicity 425469 rs773575309 9:138678366-138678366 9:135786520-135786520
43 KCNT1 NM_020822.3(KCNT1):c.3147C>T (p.Ser1049=)SNV Conflicting interpretations of pathogenicity 447648 rs765432746 9:138676726-138676726 9:135784880-135784880
44 KCNT1 NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)SNV Conflicting interpretations of pathogenicity 241304 rs147551342 9:138646997-138646997 9:135755151-135755151
45 KCNT1 NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=)SNV Conflicting interpretations of pathogenicity 196632 rs149927148 9:138683677-138683677 9:135791831-135791831
46 KCNT1 NM_020822.3(KCNT1):c.408C>T (p.Leu136=)SNV Conflicting interpretations of pathogenicity 197328 rs370046449 9:138642861-138642861 9:135751015-135751015
47 KCNT1 NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln)SNV Conflicting interpretations of pathogenicity 211244 rs138282349 9:138683940-138683940 9:135792094-135792094
48 KCNT1 NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)SNV Conflicting interpretations of pathogenicity 224110 rs869312682 9:138606448-138606448 9:135714602-135714602
49 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)SNV Conflicting interpretations of pathogenicity 286710 rs886043455 9:138675877-138675877 9:135784031-135784031
50 KCNT1 NM_020822.3(KCNT1):c.2008+10G>CSNV Conflicting interpretations of pathogenicity 288268 rs752453368 9:138662951-138662951 9:135771105-135771105

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 14

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 14.

Pathways for Epileptic Encephalopathy, Early Infantile, 14

Pathways related to Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 14

Cellular components related to Epileptic Encephalopathy, Early Infantile, 14 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.83 SCN8A SCN2A SCN1A KCNA1
2 Z disc GO:0030018 9.67 SCN8A SCN5A SCN1A
3 voltage-gated potassium channel complex GO:0008076 9.58 KCNQ1 KCNH2 KCNA1
4 SWI/SNF complex GO:0016514 9.54 SMARCA4 SMARCA2
5 axon initial segment GO:0043194 9.51 SCN8A SCN1A
6 integral component of presynaptic membrane GO:0099056 9.5 SCN2A KCNA1 CHRNA4
7 nBAF complex GO:0071565 9.48 SMARCA4 SMARCA2
8 paranode region of axon GO:0033270 9.46 SCN2A KCNA1
9 npBAF complex GO:0071564 9.43 SMARCA4 SMARCA2
10 T-tubule GO:0030315 9.43 SCN5A SCN2A SCN1A
11 sodium channel complex GO:0034706 9.37 SCN2A SCN1A
12 intercalated disc GO:0014704 9.33 SCN5A 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 Epileptic Encephalopathy, Early Infantile, 14 according to GeneCards Suite gene sharing:

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 SCN8A SCN5A SCN2A SCN1A KCNT1 KCNQ1
2 ion transmembrane transport GO:0034220 9.88 SCN8A SCN5A SCN2A SCN1A CHRNA4
3 transmembrane transport GO:0055085 9.87 SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
4 potassium ion transport GO:0006813 9.83 KCNT1 KCNQ1 KCNH2 KCNA1
5 potassium ion transmembrane transport GO:0071805 9.81 KCNT1 KCNQ1 KCNH2 KCNA1
6 sodium ion transport GO:0006814 9.8 SCN8A SCN5A SCN2A SCN1A
7 regulation of membrane potential GO:0042391 9.76 SCN1A KCNH2 KCNA1 CHRNA4
8 cardiac conduction GO:0061337 9.73 SCN5A KCNQ1 KCNH2
9 cardiac muscle contraction GO:0060048 9.72 SCN5A KCNQ1 KCNH2
10 regulation of heart rate by cardiac conduction GO:0086091 9.71 SCN5A KCNQ1 KCNH2
11 sodium ion transmembrane transport GO:0035725 9.67 SCN8A SCN5A SCN2A SCN1A
12 neuromuscular process GO:0050905 9.66 MECP2 KCNA1
13 membrane depolarization GO:0051899 9.65 SCN5A CHRNA4
14 action potential GO:0001508 9.65 SCN1A CHRNA4
15 startle response GO:0001964 9.65 MECP2 KCNA1
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.64 SCN5A SCN1A
17 regulation of gene expression by genetic imprinting GO:0006349 9.64 MECP2 KCNQ1
18 positive regulation of potassium ion transmembrane transport GO:1901381 9.63 KCNQ1 KCNH2
19 potassium ion export across plasma membrane GO:0097623 9.63 KCNQ1 KCNH2
20 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.62 SCN1A KCNA1
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.62 KCNQ1 KCNH2
22 neuromuscular process controlling posture GO:0050884 9.61 SCN1A MECP2
23 membrane repolarization GO:0086009 9.61 KCNQ1 KCNH2
24 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.61 SCN5A KCNQ1 KCNH2
25 regulation of membrane repolarization GO:0060306 9.6 KCNQ1 KCNH2
26 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.59 KCNQ1 KCNH2
27 atrial cardiac muscle cell action potential GO:0086014 9.58 SCN5A KCNQ1
28 membrane repolarization during action potential GO:0086011 9.58 KCNQ1 KCNH2
29 ventricular cardiac muscle cell action potential GO:0086005 9.58 SCN5A KCNQ1 KCNH2
30 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.57 SCN5A KCNQ1
31 neuronal action potential GO:0019228 9.55 SCN8A SCN5A SCN2A SCN1A KCNA1
32 regulation of ion transmembrane transport GO:0034765 9.5 SCN8A SCN5A SCN2A SCN1A KCNQ1 KCNH2
33 membrane depolarization during action potential GO:0086010 9.02 SCN8A SCN5A SCN2A SCN1A KCNH2

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 14

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