MCID: MLG120
MIFTS: 35

Malignant Migrating Partial Seizures of Infancy

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Malignant Migrating Partial Seizures of Infancy

MalaCards integrated aliases for Malignant Migrating Partial Seizures of Infancy:

Name: Malignant Migrating Partial Seizures of Infancy 53 25 59 6
Early Infantile Epileptic Encephalopathy 14 53 25 29 6
Malignant Migrating Partial Epilepsy of Infancy 53 25 59
Migrating Partial Epilepsy of Infancy 53 25 59
Migrating Partial Seizures of Infancy 53 25 59
Mmpsi 53 25 59
Migrating Partial Seizures in Infancy 53 25
Eiee14 53 25
Mmpei 53 59
Mpei 53 59
Mpsi 53 59
Encephalopathy, Epileptic, Early Infantile, Type 14 40
Malignant Migrating Partial Seizures in Infancy 37
Epileptic Encephalopathy, Early Infantile, 14 73

Characteristics:

Orphanet epidemiological data:

59
malignant migrating partial seizures of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA293181
KEGG 37 H01815
UMLS 73 C3554195

Summaries for Malignant Migrating Partial Seizures of Infancy

NIH Rare Diseases : 53 Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy, a condition characterized by recurrent seizures. In MMPSI, specifically, partial seizures generally begin shortly after birth and are often not responsive to treatment. Although the seizures may occur relatively infrequently in the beginning, within a few months the frequency increases drastically with some affected people experiencing clusters of 5 to 30 seizures several times per day. Signs and symptoms associated with these episodes vary based on which part of the brain is affected during a given seizure. Although the seizures associated with MMPSI do eventually become less frequent, the long-term consequences of the condition may include profound developmental delay, microcephaly (unusually small head size), intellectual disability and a shortened lifespan (many do not survive past infancy or early childhood). Although the underlying cause of MMPSI is not fully understood, de novo mutations in certain genes have been identified in several affected people and are thought to be involved in the development of the condition. Even when a genetic cause is identified, most cases of MMPSI occur sporadically in people with no family history of the condition. Treatment is generally focused on minimizing recurrent seizures. Unfortunately, the seizures associated with MMPSI are usually not well-controlled with medications that are typically prescribed to treat epilepsy.

MalaCards based summary : Malignant Migrating Partial Seizures of Infancy, also known as early infantile epileptic encephalopathy 14, is related to early myoclonic encephalopathy and epileptic encephalopathy, early infantile, 6, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Malignant Migrating Partial Seizures of Infancy is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are Neuroscience and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drug Dronabinol has been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 25 Malignant migrating partial seizures of infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay.

Related Diseases for Malignant Migrating Partial Seizures of Infancy

Diseases related to Malignant Migrating Partial Seizures of Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 29.3 SCN1A SLC25A22
2 epileptic encephalopathy, early infantile, 6 29.3 KCNT1 SCN1A SCN2A SLC25A22 TBC1D24
3 encephalopathy 29.1 SCN1A SLC25A22
4 epilepsy 28.3 KCNT1 SCN1A SLC12A5 TBC1D24
5 infantile epileptic encephalopathy 27.7 PLCB1 SCN1A SCN2A SLC25A22
6 epileptic encephalopathy, early infantile, 14 12.1
7 scheie syndrome 11.2
8 seizures, benign familial infantile, 3 10.1 SCN1A SCN2A
9 benign familial neonatal epilepsy 10.1 SCN2A TBC1D24
10 adolescence-adult electroclinical syndrome 10.0 SCN1A TBC1D24
11 status epilepticus 9.9
12 epileptic encephalopathy, early infantile, 3 9.9
13 congenital disorder of glycosylation, type in 9.9
14 epileptic encephalopathy, early infantile, 4 9.9
15 microcephaly 9.9
16 lennox-gastaut syndrome 9.9 SCN1A TBC1D24
17 agenesis of the corpus callosum with peripheral neuropathy 9.8 SLC12A5 TBC1D24
18 seizure disorder 9.8 SCN1A SCN2A
19 epilepsy with generalized tonic-clonic seizures 9.7 SCN1A SCN2A TBC1D24
20 generalized epilepsy with febrile seizures plus 9.6 SCN1A SCN2A TBC1D24
21 epilepsy, idiopathic generalized 10 9.6 SCN1A SCN2A TBC1D24
22 infancy electroclinical syndrome 9.3 KCNT1 SCN1A SCN2A TBC1D24
23 focal epilepsy 9.2 KCNT1 SCN1A SCN2A TBC1D24
24 trehalase deficiency 9.1 KCNT1 SCN1A SCN2A TBC1D24
25 epileptic encephalopathy, early infantile, 15 9.1 KCNT1 SCN1A SCN2A SLC25A22
26 epilepsy, idiopathic generalized 9.0 SCN1A SCN2A SLC12A5 TBC1D24
27 neonatal period electroclinical syndrome 9.0 SCN1A SCN2A SLC25A22 TBC1D24
28 benign epilepsy with centrotemporal spikes 8.8 KCNT1 PLCB1 SCN2A TBC1D24
29 west syndrome 7.6 KCNT1 PLCB1 SCN1A SCN2A SLC25A22 TBC1D24

Graphical network of the top 20 diseases related to Malignant Migrating Partial Seizures of Infancy:



Diseases related to Malignant Migrating Partial Seizures of Infancy

Symptoms & Phenotypes for Malignant Migrating Partial Seizures of Infancy

UMLS symptoms related to Malignant Migrating Partial Seizures of Infancy:


clonus, twitching of facial muscles

GenomeRNAi Phenotypes related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 SLC12A5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.5 SLC12A5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.5 SLC12A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.5 SLC25A22
5 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.5 SLC12A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.5 SLC12A5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.5 SLC12A5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.5 SLC12A5 SLC25A22
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 SLC25A22
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.5 SLC25A22
11 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.5 SLC12A5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.5 SLC25A22
13 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 SLC25A22
14 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.5 SLC25A22

Drugs & Therapeutics for Malignant Migrating Partial Seizures of Infancy

Drugs for Malignant Migrating Partial Seizures of Infancy (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

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 Malignant Migrating Partial Seizures of Infancy

Genetic Tests for Malignant Migrating Partial Seizures of Infancy

Genetic tests related to Malignant Migrating Partial Seizures of Infancy:

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

Anatomical Context for Malignant Migrating Partial Seizures of Infancy

MalaCards organs/tissues related to Malignant Migrating Partial Seizures of Infancy:

41
Brain

Publications for Malignant Migrating Partial Seizures of Infancy

Articles related to Malignant Migrating Partial Seizures of Infancy:

# 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 Malignant Migrating Partial Seizures of Infancy

ClinVar genetic disease variations for Malignant Migrating Partial Seizures of Infancy:

6
(show top 50) (show all 432)
# 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 Malignant Migrating Partial Seizures of Infancy

Search GEO for disease gene expression data for Malignant Migrating Partial Seizures of Infancy.

Pathways for Malignant Migrating Partial Seizures of Infancy

Pathways related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.87 SCN1A SCN2A SLC12A5
2
Show member pathways
11.52 KCNT1 PLCB1 SCN1A SCN2A
3
Show member pathways
11.42 SCN1A SCN2A
4
Show member pathways
11.13 SCN1A SCN2A
5 10.43 SCN1A SCN2A

GO Terms for Malignant Migrating Partial Seizures of Infancy

Cellular components related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.32 SCN1A SCN2A
2 T-tubule GO:0030315 9.26 SCN1A SCN2A
3 node of Ranvier GO:0033268 9.16 SCN1A SCN2A
4 voltage-gated sodium channel complex GO:0001518 8.96 SCN1A SCN2A
5 sodium channel complex GO:0034706 8.62 SCN1A SCN2A

Biological processes related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.37 KCNT1 SCN1A
2 sodium ion transmembrane transport GO:0035725 9.32 SCN1A SCN2A
3 membrane depolarization during action potential GO:0086010 9.26 SCN1A SCN2A
4 transmembrane transport GO:0055085 9.26 SCN1A SCN2A SLC12A5 SLC25A22
5 neuronal action potential GO:0019228 9.16 SCN1A SCN2A
6 ion transport GO:0006811 9.02 KCNT1 SCN1A SCN2A SLC12A5 SLC25A22

Molecular functions related to Malignant Migrating Partial Seizures of Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.32 SCN1A SCN2A
2 symporter activity GO:0015293 9.26 SLC12A5 SLC25A22
3 cation channel activity GO:0005261 9.16 SCN1A SCN2A
4 sodium channel activity GO:0005272 8.96 SCN1A SCN2A
5 voltage-gated sodium channel activity GO:0005248 8.62 SCN1A SCN2A

Sources for Malignant Migrating Partial Seizures of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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