EIEE14
MCID: EPL097
MIFTS: 32

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 Epidiolex have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, 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

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 status epilepticus 10.1

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 status epilepticus 33 HP:0002133
9 generalized hypotonia 33 HP:0001290
10 hypoplasia of the corpus callosum 33 HP:0002079
11 epileptic encephalopathy 33 HP:0200134
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 Epidiolex Phase 1
3 Anticonvulsants 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

Publications for Epileptic Encephalopathy, Early Infantile, 14

Articles related to Epileptic Encephalopathy, Early Infantile, 14:

# Title Authors Year
1
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. ( 23526554 )
2013
2
Therapeutic Hypothermia for Refractory Status Epilepticus in a Child with Malignant Migrating Partial Seizures of Infancy and SCN1A Mutation: A Case Report. ( 23667778 )
2012
3
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. ( 23086397 )
2012
4
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 544)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh37 Chromosome 9, 138594203: 138594203
2 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh38 Chromosome 9, 135702357: 135702357
3 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh37 Chromosome 9, 138594134: 138594134
4 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh38 Chromosome 9, 135702288: 135702288
5 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh37 Chromosome 9, 138651612: 138651612
6 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh38 Chromosome 9, 135759766: 135759766
7 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh37 Chromosome 9, 138651559: 138651559
8 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh38 Chromosome 9, 135759713: 135759713
9 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh37 Chromosome 9, 138651555: 138651555
10 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh38 Chromosome 9, 135759709: 135759709
11 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh37 Chromosome 9, 138656945: 138656945
12 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh38 Chromosome 9, 135765099: 135765099
13 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh37 Chromosome 9, 138662832: 138662832
14 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh38 Chromosome 9, 135770986: 135770986
15 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh37 Chromosome 9, 138662860: 138662860
16 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh38 Chromosome 9, 135771014: 135771014
17 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh37 Chromosome 9, 138664787: 138664787
18 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh38 Chromosome 9, 135772941: 135772941
19 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh37 Chromosome 9, 138664766: 138664766
20 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh38 Chromosome 9, 135772920: 135772920
21 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh37 Chromosome 9, 138669264: 138669264
22 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh38 Chromosome 9, 135777418: 135777418
23 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign/Likely benign rs149028586 GRCh37 Chromosome 9, 138669210: 138669210
24 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign/Likely benign rs149028586 GRCh38 Chromosome 9, 135777364: 135777364
25 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh37 Chromosome 9, 138676431: 138676431
26 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh38 Chromosome 9, 135784585: 135784585
27 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh37 Chromosome 9, 138642022: 138642022
28 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh38 Chromosome 9, 135750176: 135750176
29 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh37 Chromosome 9, 138642861: 138642861
30 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh38 Chromosome 9, 135751015: 135751015
31 KCNT1 NM_020822.2(KCNT1): c.1134C> T (p.Val378=) single nucleotide variant Benign/Likely benign rs149960236 GRCh38 Chromosome 9, 135765129: 135765129
32 KCNT1 NM_020822.2(KCNT1): c.1134C> T (p.Val378=) single nucleotide variant Benign/Likely benign rs149960236 GRCh37 Chromosome 9, 138656975: 138656975
33 KCNT1 NM_020822.2(KCNT1): c.1533G> A (p.Glu511=) single nucleotide variant Benign/Likely benign rs151080601 GRCh38 Chromosome 9, 135769969: 135769969
34 KCNT1 NM_020822.2(KCNT1): c.1533G> A (p.Glu511=) single nucleotide variant Benign/Likely benign rs151080601 GRCh37 Chromosome 9, 138661815: 138661815
35 KCNT1 NM_020822.2(KCNT1): c.3157-8C> T single nucleotide variant Benign/Likely benign rs371874401 GRCh38 Chromosome 9, 135785302: 135785302
36 KCNT1 NM_020822.2(KCNT1): c.3157-8C> T single nucleotide variant Benign/Likely benign rs371874401 GRCh37 Chromosome 9, 138677148: 138677148
37 KCNT1 NM_020822.2(KCNT1): c.3340C> T (p.Arg1114Trp) single nucleotide variant Likely benign rs370085077 GRCh37 Chromosome 9, 138678205: 138678205
38 KCNT1 NM_020822.2(KCNT1): c.3340C> T (p.Arg1114Trp) single nucleotide variant Likely benign rs370085077 GRCh38 Chromosome 9, 135786359: 135786359
39 KCNT1 NM_020822.2(KCNT1): c.3641G> A (p.Arg1214Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138282349 GRCh37 Chromosome 9, 138683940: 138683940
40 KCNT1 NM_020822.2(KCNT1): c.3641G> A (p.Arg1214Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138282349 GRCh38 Chromosome 9, 135792094: 135792094
41 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh37 Chromosome 9, 138657552: 138657552
42 KCNT1 NM_020822.2(KCNT1): c.1283G> A (p.Arg428Gln) single nucleotide variant Pathogenic rs397515402 GRCh38 Chromosome 9, 135765706: 135765706
43 KCNT1 NM_020822.2(KCNT1): c.2800G> A (p.Ala934Thr) single nucleotide variant Pathogenic rs397515403 GRCh37 Chromosome 9, 138671275: 138671275
44 KCNT1 NM_020822.2(KCNT1): c.2800G> A (p.Ala934Thr) single nucleotide variant Pathogenic rs397515403 GRCh38 Chromosome 9, 135779429: 135779429
45 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh37 Chromosome 9, 138660694: 138660694
46 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh38 Chromosome 9, 135768848: 135768848
47 KCNT1 NM_020822.2(KCNT1): c.2280C> G (p.Ile760Met) single nucleotide variant Likely pathogenic rs370521183 GRCh37 Chromosome 9, 138667192: 138667192
48 KCNT1 NM_020822.2(KCNT1): c.2280C> G (p.Ile760Met) single nucleotide variant Likely pathogenic rs370521183 GRCh38 Chromosome 9, 135775346: 135775346
49 KCNT1 NM_020822.2(KCNT1): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs397515407 GRCh37 Chromosome 9, 138657034: 138657034
50 KCNT1 NM_020822.2(KCNT1): c.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs397515407 GRCh38 Chromosome 9, 135765188: 135765188

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

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