EIEE14
MCID: EPL097
MIFTS: 33

Epileptic Encephalopathy, Early Infantile, 14 (EIEE14)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 13 74
Early Infantile Epileptic Encephalopathy 14 12 30 6 15
Eiee14 58 76
Encephalopathy, Epileptic, Early Infantile, Type 14 41
Malignant Migrating Partial Seizures of Infancy 76
Mmpsi 76

Characteristics:

OMIM:

58
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:

33
epileptic encephalopathy, early infantile, 14:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 14

OMIM : 58 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 autosomal dominant nocturnal frontal lobe 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 Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, 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 : 76 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

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

# Related Disease Score Top Affiliating Genes
1 malignant migrating partial seizures of infancy 11.5
2 autosomal dominant nocturnal frontal lobe epilepsy 10.2
3 epileptic encephalopathy, early infantile, 6 10.0
4 epileptic encephalopathy, early infantile, 16 10.0
5 status epilepticus 10.0

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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 poor eye contact 33 occasional (7.5%) HP:0000817
2 spasticity 33 HP:0001257
3 clonus 33 HP:0002169
4 developmental regression 33 HP:0002376
5 tetraplegia 33 HP:0002445
6 microcephaly 33 HP:0000252
7 cerebral cortical atrophy 33 HP:0002120
8 epileptic encephalopathy 33 HP:0200134
9 status epilepticus 33 HP:0002133
10 generalized hypotonia 33 HP:0001290
11 hypoplasia of the corpus callosum 33 HP:0002079
12 neuronal loss in central nervous system 33 HP:0002529
13 gliosis 33 HP:0002171
14 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
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 Anticonvulsants Phase 1
3 Epidiolex Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
2 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285

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 30 KCNT1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 14

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

42
Brain, Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 14

Articles related to Epileptic Encephalopathy, Early Infantile, 14:

# Title Authors Year
1
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. ( 24120652 )
2014
2
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. ( 24029078 )
2013
3
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. ( 23526554 )
2013
4
Therapeutic hypothermia for refractory status epilepticus in a child with malignant migrating partial seizures of infancy and SCN1A mutation: a case report. ( 23667778 )
2012
5
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. ( 23086397 )
2012
6
Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. ( 21555645 )
2011

Variations for Epileptic Encephalopathy, Early Infantile, 14

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

76
# 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

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

6 (show top 50) (show all 552)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh37 Chromosome 9, 138657552: 138657552
2 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh38 Chromosome 9, 135765706: 135765706
3 KCNT1 NM_020822.2(KCNT1): c.2800G> A (p.Ala934Thr) single nucleotide variant Pathogenic rs397515403 GRCh37 Chromosome 9, 138671275: 138671275
4 KCNT1 NM_020822.2(KCNT1): c.2800G> A (p.Ala934Thr) single nucleotide variant Pathogenic rs397515403 GRCh38 Chromosome 9, 135779429: 135779429
5 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh37 Chromosome 9, 138660694: 138660694
6 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh38 Chromosome 9, 135768848: 135768848
7 KCNT1 NM_020822.2(KCNT1): c.2280C> G (p.Ile760Met) single nucleotide variant Likely pathogenic rs370521183 GRCh37 Chromosome 9, 138667192: 138667192
8 KCNT1 NM_020822.2(KCNT1): c.2280C> G (p.Ile760Met) single nucleotide variant Likely pathogenic rs370521183 GRCh38 Chromosome 9, 135775346: 135775346
9 KCNT1 NM_020822.2(KCNT1): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs397515407 GRCh37 Chromosome 9, 138657034: 138657034
10 KCNT1 NM_020822.2(KCNT1): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs397515407 GRCh38 Chromosome 9, 135765188: 135765188
11 KCNT1 NM_020822.2(KCNT1): c.2794T> A (p.Phe932Ile) single nucleotide variant Uncertain significance rs886044717 GRCh37 Chromosome 9, 138671269: 138671269
12 KCNT1 NM_020822.2(KCNT1): c.2794T> A (p.Phe932Ile) single nucleotide variant Uncertain significance rs886044717 GRCh38 Chromosome 9, 135779423: 135779423
13 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh37 Chromosome 9, 138651532: 138651532
14 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh38 Chromosome 9, 135759686: 135759686
15 KCNT1 NM_020822.2(KCNT1): c.116C> T (p.Pro39Leu) single nucleotide variant Benign rs201051863 GRCh37 Chromosome 9, 138606428: 138606428
16 KCNT1 NM_020822.2(KCNT1): c.116C> T (p.Pro39Leu) single nucleotide variant Benign rs201051863 GRCh38 Chromosome 9, 135714582: 135714582
17 KCNT1 NM_020822.2(KCNT1): c.1879A> G (p.Ile627Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143355299 GRCh37 Chromosome 9, 138662812: 138662812
18 KCNT1 NM_020822.2(KCNT1): c.1879A> G (p.Ile627Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143355299 GRCh38 Chromosome 9, 135770966: 135770966
19 KCNT1 NM_020822.2(KCNT1): c.2034C> T (p.Gly678=) single nucleotide variant Conflicting interpretations of pathogenicity rs369983077 GRCh37 Chromosome 9, 138664586: 138664586
20 KCNT1 NM_020822.2(KCNT1): c.2034C> T (p.Gly678=) single nucleotide variant Conflicting interpretations of pathogenicity rs369983077 GRCh38 Chromosome 9, 135772740: 135772740
21 KCNT1 NM_020822.2(KCNT1): c.2210C> T (p.Thr737Met) single nucleotide variant Benign rs61744696 GRCh37 Chromosome 9, 138664762: 138664762
22 KCNT1 NM_020822.2(KCNT1): c.2210C> T (p.Thr737Met) single nucleotide variant Benign rs61744696 GRCh38 Chromosome 9, 135772916: 135772916
23 KCNT1 NM_020822.2(KCNT1): c.2543A> G (p.Glu848Gly) single nucleotide variant Likely benign rs149804567 GRCh37 Chromosome 9, 138670290: 138670290
24 KCNT1 NM_020822.2(KCNT1): c.2543A> G (p.Glu848Gly) single nucleotide variant Likely benign rs149804567 GRCh38 Chromosome 9, 135778444: 135778444
25 KCNT1 NM_020822.2(KCNT1): c.2619C> T (p.Gly873=) single nucleotide variant Benign rs144659358 GRCh37 Chromosome 9, 138670558: 138670558
26 KCNT1 NM_020822.2(KCNT1): c.2619C> T (p.Gly873=) single nucleotide variant Benign rs144659358 GRCh38 Chromosome 9, 135778712: 135778712
27 KCNT1 NM_020822.2(KCNT1): c.2943+6C> T single nucleotide variant Benign/Likely benign rs28612938 GRCh37 Chromosome 9, 138675977: 138675977
28 KCNT1 NM_020822.2(KCNT1): c.2943+6C> T single nucleotide variant Benign/Likely benign rs28612938 GRCh38 Chromosome 9, 135784131: 135784131
29 KCNT1 NM_020822.2(KCNT1): c.3295C> T (p.Pro1099Ser) single nucleotide variant Benign/Likely benign rs200642629 GRCh37 Chromosome 9, 138678160: 138678160
30 KCNT1 NM_020822.2(KCNT1): c.3295C> T (p.Pro1099Ser) single nucleotide variant Benign/Likely benign rs200642629 GRCh38 Chromosome 9, 135786314: 135786314
31 KCNT1 NM_020822.2(KCNT1): c.3312G> A (p.Leu1104=) single nucleotide variant Benign rs149416418 GRCh37 Chromosome 9, 138678177: 138678177
32 KCNT1 NM_020822.2(KCNT1): c.3312G> A (p.Leu1104=) single nucleotide variant Benign rs149416418 GRCh38 Chromosome 9, 135786331: 135786331
33 KCNT1 NM_020822.2(KCNT1): c.3388G> A (p.Ala1130Thr) single nucleotide variant Benign/Likely benign rs138421850 GRCh37 Chromosome 9, 138678253: 138678253
34 KCNT1 NM_020822.2(KCNT1): c.3388G> A (p.Ala1130Thr) single nucleotide variant Benign/Likely benign rs138421850 GRCh38 Chromosome 9, 135786407: 135786407
35 KCNT1 NM_020822.2(KCNT1): c.3390G> A (p.Ala1130=) single nucleotide variant Benign rs77912754 GRCh37 Chromosome 9, 138678255: 138678255
36 KCNT1 NM_020822.2(KCNT1): c.3390G> A (p.Ala1130=) single nucleotide variant Benign rs77912754 GRCh38 Chromosome 9, 135786409: 135786409
37 KCNT1 NM_020822.2(KCNT1): c.59G> C (p.Gly20Ala) single nucleotide variant Benign/Likely benign rs146292575 GRCh37 Chromosome 9, 138594163: 138594163
38 KCNT1 NM_020822.2(KCNT1): c.59G> C (p.Gly20Ala) single nucleotide variant Benign/Likely benign rs146292575 GRCh38 Chromosome 9, 135702317: 135702317
39 KCNT1 NM_020822.2(KCNT1): c.711C> G (p.Pro237=) single nucleotide variant Benign rs117286274 GRCh37 Chromosome 9, 138649179: 138649179
40 KCNT1 NM_020822.2(KCNT1): c.711C> G (p.Pro237=) single nucleotide variant Benign rs117286274 GRCh38 Chromosome 9, 135757333: 135757333
41 KCNT1 NM_020822.2(KCNT1): c.978A> G (p.Pro326=) single nucleotide variant Benign rs61739517 GRCh37 Chromosome 9, 138651648: 138651648
42 KCNT1 NM_020822.2(KCNT1): c.978A> G (p.Pro326=) single nucleotide variant Benign rs61739517 GRCh38 Chromosome 9, 135759802: 135759802
43 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh37 Chromosome 9, 138594203: 138594203
44 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh38 Chromosome 9, 135702357: 135702357
45 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh37 Chromosome 9, 138594134: 138594134
46 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh38 Chromosome 9, 135702288: 135702288
47 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh37 Chromosome 9, 138651612: 138651612
48 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh38 Chromosome 9, 135759766: 135759766
49 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh37 Chromosome 9, 138651559: 138651559
50 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh38 Chromosome 9, 135759713: 135759713

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....