EIEE14
MCID: EPL097
MIFTS: 37

Epileptic Encephalopathy, Early Infantile, 14 (EIEE14)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 visual epilepsy, 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). The drugs Dronabinol and Epidiolex have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and bone, and related phenotypes are poor eye contact and spasticity

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 Arx-Related Epileptic Encephalopathy

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 malignant migrating partial seizures of infancy 11.6
2 visual epilepsy 10.5
3 seizure disorder 10.5
4 slc12a5-related epilepsy of infancy with migrating focal seizures 10.4
5 status epilepticus 10.3
6 autosomal dominant nocturnal frontal lobe epilepsy 10.2
7 encephalopathy 10.2
8 epileptic encephalopathy, early infantile, 6 10.1
9 epileptic encephalopathy, early infantile, 16 10.1
10 alacrima, achalasia, and mental retardation syndrome 10.1
11 early myoclonic encephalopathy 10.1
12 hypokalemia 10.1
13 kcnt1-related epilepsy 10.1
14 tbc1d24-related disorders 10.1

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 spasticity 31 HP:0001257
3 clonus 31 HP:0002169
4 tetraplegia 31 HP:0002445
5 developmental regression 31 HP:0002376
6 cerebral cortical atrophy 31 HP:0002120
7 microcephaly 31 HP:0000252
8 generalized hypotonia 31 HP:0001290
9 epileptic encephalopathy 31 HP:0200134
10 status epilepticus 31 HP:0002133
11 hypoplasia of the corpus callosum 31 HP:0002079
12 delayed myelination 31 HP:0012448
13 neuronal loss in central nervous system 31 HP:0002529
14 gliosis 31 HP:0002171

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
clonus
status epilepticus
hypotonia
cortical atrophy
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

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


clonus, twitching of facial muscles

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
3 Anticonvulsants 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, Bone, Liver

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. 61 56 6
23086397 2012
2
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 56 6
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. 61 56
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 203) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)SNV Pathogenic 39593 rs397515402 9:138657552-138657552 9:135765706-135765706
2 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr)SNV Pathogenic 39594 rs397515403 9:138671275-138671275 9:135779429-135779429
3 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)SNV Pathogenic 39598 rs397515406 9:138669220-138669220 9:135777374-135777374
4 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)SNV Pathogenic 39599 rs397515407 9:138657034-138657034 9:135765188-135765188
5 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)SNV Pathogenic 126421 rs587777264 9:138651532-138651532 9:135759686-135759686
6 KCNT1 NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)SNV Pathogenic 265210 rs866242631 9:138660693-138660693 9:135768847-135768847
7 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg)SNV Pathogenic 412308 rs1060503696 9:138670626-138670626 9:135778780-135778780
8 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu)SNV Pathogenic 473378 rs886043455 9:138675877-138675877 9:135784031-135784031
9 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)SNV Pathogenic/Likely pathogenic 39595 rs397515404 9:138660694-138660694 9:135768848-135768848
10 KCNT1 NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met)SNV Likely pathogenic 39596 rs370521183 9:138667192-138667192 9:135775346-135775346
11 KCNT1 NM_020822.3(KCNT1):c.1406A>T (p.His469Leu)SNV Likely pathogenic 496671 rs1554774322 9:138660679-138660679 9:135768833-135768833
12 KCNT1 NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)SNV Likely pathogenic 802536 9:138678203-138678203 9:135786357-135786357
13 KCNT1 NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)SNV Conflicting interpretations of pathogenicity 595530 rs141695705 9:138676651-138676651 9:135784805-135784805
14 KCNT1 NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)SNV Conflicting interpretations of pathogenicity 502633 rs140367649 9:138656951-138656951 9:135765105-135765105
15 KCNT1 NM_020822.3(KCNT1):c.981G>A (p.Ser327=)SNV Conflicting interpretations of pathogenicity 511651 rs373317695 9:138651651-138651651 9:135759805-135759805
16 KCNT1 NM_020822.3(KCNT1):c.2104G>A (p.Gly702Ser)SNV Conflicting interpretations of pathogenicity 513011 rs550447485 9:138664656-138664656 9:135772810-135772810
17 KCNT1 NM_020822.3(KCNT1):c.1694G>A (p.Arg565His)SNV Conflicting interpretations of pathogenicity 508726 rs769855266 9:138662218-138662218 9:135770372-135770372
18 KCNT1 NM_020822.3(KCNT1):c.3196G>A (p.Val1066Met)SNV Conflicting interpretations of pathogenicity 582792 rs553389226 9:138678061-138678061 9:135786215-135786215
19 KCNT1 NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)SNV Conflicting interpretations of pathogenicity 662662 9:138657494-138657494 9:135765648-135765648
20 KCNT1 NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met)SNV Conflicting interpretations of pathogenicity 194424 rs539139475 9:138660512-138660512 9:135768666-135768666
21 KCNT1 NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)SNV Conflicting interpretations of pathogenicity 224110 rs869312682 9:138606448-138606448 9:135714602-135714602
22 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)SNV Conflicting interpretations of pathogenicity 286710 rs886043455 9:138675877-138675877 9:135784031-135784031
23 KCNT1 NM_020822.3(KCNT1):c.3632C>G (p.Ser1211Cys)SNV Conflicting interpretations of pathogenicity 390175 rs752729337 9:138683931-138683931 9:135792085-135792085
24 KCNT1 NM_020822.3(KCNT1):c.417G>A (p.Pro139=)SNV Conflicting interpretations of pathogenicity 386987 rs542441332 9:138642870-138642870 9:135751024-135751024
25 KCNT1 NM_020822.3(KCNT1):c.1338-3C>TSNV Conflicting interpretations of pathogenicity 389495 rs369562243 9:138660453-138660453 9:135768607-135768607
26 KCNT1 NM_020822.3(KCNT1):c.1612C>T (p.Arg538Cys)SNV Conflicting interpretations of pathogenicity 390178 rs774588571 9:138661894-138661894 9:135770048-135770048
27 KCNT1 NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)SNV Conflicting interpretations of pathogenicity 389450 rs752514808 9:138656907-138656907 9:135765061-135765061
28 KCNT1 NM_020822.3(KCNT1):c.3289G>A (p.Gly1097Ser)SNV Conflicting interpretations of pathogenicity 392065 rs199779214 9:138678154-138678154 9:135786308-135786308
29 KCNT1 NM_020822.3(KCNT1):c.2595-9C>TSNV Conflicting interpretations of pathogenicity 385486 rs369966222 9:138670525-138670525 9:135778679-135778679
30 KCNT1 NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)SNV Conflicting interpretations of pathogenicity 389773 rs376757326 9:138670613-138670613 9:135778767-135778767
31 KCNT1 NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met)SNV Conflicting interpretations of pathogenicity 473384 rs373041291 9:138678146-138678146 9:135786300-135786300
32 KCNT1 NM_020822.3(KCNT1):c.3100G>A (p.Ala1034Thr)SNV Conflicting interpretations of pathogenicity 412318 rs779961735 9:138676679-138676679 9:135784833-135784833
33 KCNT1 NM_020822.3(KCNT1):c.2030A>G (p.Gln677Arg)SNV Conflicting interpretations of pathogenicity 417209 rs1060505000 9:138664582-138664582 9:135772736-135772736
34 KCNT1 NM_020822.3(KCNT1):c.1718G>A (p.Arg573His)SNV Conflicting interpretations of pathogenicity 418274 rs575162600 9:138662242-138662242 9:135770396-135770396
35 KCNT1 NM_020822.3(KCNT1):c.2223C>T (p.Asp741=)SNV Conflicting interpretations of pathogenicity 425468 rs144118960 9:138664775-138664775 9:135772929-135772929
36 KCNT1 NM_020822.3(KCNT1):c.2170_2184dup (p.Pro724_Leu728dup)duplication Uncertain significance 429344 rs757605635 9:138664714-138664715 9:135772868-135772869
37 KCNT1 NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln)SNV Uncertain significance 447646 rs1188425438 9:138664597-138664597 9:135772751-135772751
38 KCNT1 NM_020822.3(KCNT1):c.1407C>G (p.His469Gln)SNV Uncertain significance 451447 rs537722828 9:138660680-138660680 9:135768834-135768834
39 KCNT1 NM_020822.3(KCNT1):c.1898C>T (p.Ser633Leu)SNV Uncertain significance 452438 rs377750450 9:138662831-138662831 9:135770985-135770985
40 KCNT1 NM_020822.3(KCNT1):c.1139C>T (p.Ser380Phe)SNV Uncertain significance 473355 rs765193021 9:138656980-138656980 9:135765134-135765134
41 KCNT1 NM_020822.3(KCNT1):c.1174G>A (p.Glu392Lys)SNV Uncertain significance 473356 rs780708628 9:138657015-138657015 9:135765169-135765169
42 KCNT1 NM_020822.3(KCNT1):c.1637C>T (p.Pro546Leu)SNV Uncertain significance 473361 rs770986306 9:138662161-138662161 9:135770315-135770315
43 KCNT1 NM_020822.3(KCNT1):c.2119C>T (p.Arg707Trp)SNV Uncertain significance 412315 rs568144711 9:138664671-138664671 9:135772825-135772825
44 KCNT1 NM_020822.3(KCNT1):c.3244C>G (p.Arg1082Gly)SNV Uncertain significance 412306 rs776232246 9:138678109-138678109 9:135786263-135786263
45 KCNT1 NM_020822.3(KCNT1):c.1250G>A (p.Arg417His)SNV Uncertain significance 412310 rs745965148 9:138657519-138657519 9:135765673-135765673
46 KCNT1 NM_020822.3(KCNT1):c.2695G>A (p.Ala899Thr)SNV Uncertain significance 412309 rs778647834 9:138670634-138670634 9:135778788-135778788
47 KCNT1 NM_020822.3(KCNT1):c.3163G>A (p.Asp1055Asn)SNV Uncertain significance 412313 rs537379253 9:138677162-138677162 9:135785316-135785316
48 KCNT1 NM_020822.3(KCNT1):c.3341G>A (p.Arg1114Gln)SNV Uncertain significance 473387 rs758311066 9:138678206-138678206 9:135786360-135786360
49 KCNT1 NM_020822.3(KCNT1):c.2757G>A (p.Thr919=)SNV Uncertain significance 473375 rs775752475 9:138671232-138671232 9:135779386-135779386
50 KCNT1 NM_020822.3(KCNT1):c.3275G>A (p.Arg1092His)SNV Uncertain significance 473383 rs369576806 9:138678140-138678140 9:135786294-135786294

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

GO Terms for Epileptic Encephalopathy, Early Infantile, 14

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
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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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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