MCID: EPL097
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 14

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 14

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

Name: Epileptic Encephalopathy, Early Infantile, 14 57 75 13 73
Eiee14 57 75
Malignant Migrating Partial Seizures of Infancy 75
Mmpsi 75

Characteristics:

OMIM:

57
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:

32
epileptic encephalopathy, early infantile, 14:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 14

OMIM : 57 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 eiee14, is related to malignant migrating partial seizures of infancy, 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). Affiliated tissues include brain and eye, and related phenotypes are microcephaly and poor eye contact

UniProtKB/Swiss-Prot : 75 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 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

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 11.3

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 14

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 poor eye contact 32 occasional (7.5%) HP:0000817
3 spasticity 32 HP:0001257
4 generalized hypotonia 32 HP:0001290
5 hypoplasia of the corpus callosum 32 HP:0002079
6 cerebral cortical atrophy 32 HP:0002120
7 status epilepticus 32 HP:0002133
8 clonus 32 HP:0002169
9 gliosis 32 HP:0002171
10 developmental regression 32 HP:0002376
11 tetraplegia 32 HP:0002445
12 neuronal loss in central nervous system 32 HP:0002529
13 epileptic encephalopathy 32 HP:0200134

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


clonus, twitching of facial muscles

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 14

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

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 14

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 14

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

41
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:

75
# 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 rs1057519544Epileptic
7 KCNT1 p.Gly269Ser VAR_078683 rs587777264
8 KCNT1 p.Ala947Thr VAR_078685

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

6
(show top 50) (show all 426)
# 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.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh37 Chromosome 9, 138651532: 138651532
12 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh38 Chromosome 9, 135759686: 135759686
13 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh37 Chromosome 9, 138594203: 138594203
14 KCNT1 NM_020822.2(KCNT1): c.99A> G (p.Gln33=) single nucleotide variant Conflicting interpretations of pathogenicity rs146152956 GRCh38 Chromosome 9, 135702357: 135702357
15 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh37 Chromosome 9, 138594134: 138594134
16 KCNT1 NM_020822.2(KCNT1): c.30G> A (p.Pro10=) single nucleotide variant Benign rs139034501 GRCh38 Chromosome 9, 135702288: 135702288
17 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh37 Chromosome 9, 138651612: 138651612
18 KCNT1 NM_020822.2(KCNT1): c.942C> T (p.Thr314=) single nucleotide variant Conflicting interpretations of pathogenicity rs144766991 GRCh38 Chromosome 9, 135759766: 135759766
19 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh37 Chromosome 9, 138651559: 138651559
20 KCNT1 NM_020822.2(KCNT1): c.889G> A (p.Glu297Lys) single nucleotide variant Uncertain significance rs146070496 GRCh38 Chromosome 9, 135759713: 135759713
21 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh37 Chromosome 9, 138651555: 138651555
22 KCNT1 NM_020822.2(KCNT1): c.885G> A (p.Ala295=) single nucleotide variant Conflicting interpretations of pathogenicity rs142756900 GRCh38 Chromosome 9, 135759709: 135759709
23 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh37 Chromosome 9, 138656945: 138656945
24 KCNT1 NM_020822.2(KCNT1): c.1104G> A (p.Ala368=) single nucleotide variant Benign/Likely benign rs146032445 GRCh38 Chromosome 9, 135765099: 135765099
25 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh37 Chromosome 9, 138662832: 138662832
26 KCNT1 NM_020822.2(KCNT1): c.1899G> A (p.Ser633=) single nucleotide variant Conflicting interpretations of pathogenicity rs371135108 GRCh38 Chromosome 9, 135770986: 135770986
27 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh37 Chromosome 9, 138662860: 138662860
28 KCNT1 NM_020822.2(KCNT1): c.1927C> T (p.Arg643Trp) single nucleotide variant Uncertain significance rs532620254 GRCh38 Chromosome 9, 135771014: 135771014
29 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh37 Chromosome 9, 138664787: 138664787
30 KCNT1 NM_020822.2(KCNT1): c.2235C> T (p.Ser745=) single nucleotide variant Benign/Likely benign rs146810749 GRCh38 Chromosome 9, 135772941: 135772941
31 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh37 Chromosome 9, 138664766: 138664766
32 KCNT1 NM_020822.2(KCNT1): c.2214G> A (p.Pro738=) single nucleotide variant Conflicting interpretations of pathogenicity rs142424896 GRCh38 Chromosome 9, 135772920: 135772920
33 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh37 Chromosome 9, 138669264: 138669264
34 KCNT1 NM_020822.2(KCNT1): c.2430C> T (p.Ala810=) single nucleotide variant Benign rs139114208 GRCh38 Chromosome 9, 135777418: 135777418
35 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign rs149028586 GRCh37 Chromosome 9, 138669210: 138669210
36 KCNT1 NM_020822.2(KCNT1): c.2376C> T (p.Asp792=) single nucleotide variant Benign rs149028586 GRCh38 Chromosome 9, 135777364: 135777364
37 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh37 Chromosome 9, 138676431: 138676431
38 KCNT1 NM_020822.2(KCNT1): c.2994G> A (p.Leu998=) single nucleotide variant Benign/Likely benign rs143198263 GRCh38 Chromosome 9, 135784585: 135784585
39 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh37 Chromosome 9, 138642022: 138642022
40 KCNT1 NM_020822.2(KCNT1): c.333G> A (p.Ser111=) single nucleotide variant Benign/Likely benign rs56008253 GRCh38 Chromosome 9, 135750176: 135750176
41 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh37 Chromosome 9, 138642861: 138642861
42 KCNT1 NM_020822.2(KCNT1): c.408C> T (p.Leu136=) single nucleotide variant Conflicting interpretations of pathogenicity rs370046449 GRCh38 Chromosome 9, 135751015: 135751015
43 KCNT1 NM_020822.2(KCNT1): c.1134C> T (p.Val378=) single nucleotide variant Benign/Likely benign rs149960236 GRCh38 Chromosome 9, 135765129: 135765129
44 KCNT1 NM_020822.2(KCNT1): c.1134C> T (p.Val378=) single nucleotide variant Benign/Likely benign rs149960236 GRCh37 Chromosome 9, 138656975: 138656975
45 KCNT1 NM_020822.2(KCNT1): c.1533G> A (p.Glu511=) single nucleotide variant Benign/Likely benign rs151080601 GRCh38 Chromosome 9, 135769969: 135769969
46 KCNT1 NM_020822.2(KCNT1): c.1533G> A (p.Glu511=) single nucleotide variant Benign/Likely benign rs151080601 GRCh37 Chromosome 9, 138661815: 138661815
47 KCNT1 NM_020822.2(KCNT1): c.3157-8C> T single nucleotide variant Benign/Likely benign rs371874401 GRCh38 Chromosome 9, 135785302: 135785302
48 KCNT1 NM_020822.2(KCNT1): c.3157-8C> T single nucleotide variant Benign/Likely benign rs371874401 GRCh37 Chromosome 9, 138677148: 138677148
49 KCNT1 NM_020822.2(KCNT1): c.3340C> T (p.Arg1114Trp) single nucleotide variant Likely benign rs370085077 GRCh37 Chromosome 9, 138678205: 138678205
50 KCNT1 NM_020822.2(KCNT1): c.3340C> T (p.Arg1114Trp) single nucleotide variant Likely benign rs370085077 GRCh38 Chromosome 9, 135786359: 135786359

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

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