MCID: MLG120
MIFTS: 36

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 50 25 56
Malignant Migrating Partial Epilepsy of Infancy 50 25 56
Early Infantile Epileptic Encephalopathy 14 50 25 29
Migrating Partial Epilepsy of Infancy 50 25 56
Migrating Partial Seizures of Infancy 50 25 56
Mmpsi 50 25 56
Migrating Partial Seizures in Infancy 50 25
Eiee14 50 25
Mmpei 50 56
Mpei 50 56
Mpsi 50 56
Epileptic Encephalopathy, Early Infantile, 14 69

Characteristics:

Orphanet epidemiological data:

56
malignant migrating partial seizures of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA293181

Summaries for Malignant Migrating Partial Seizures of Infancy

NIH Rare Diseases : 50 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. last updated: 3/30/2016

MalaCards based summary : Malignant Migrating Partial Seizures of Infancy, also known as malignant migrating partial epilepsy of infancy, is related to epileptic encephalopathy, early infantile, 14 and mucopolysaccharidosis is, 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 G-Beta Gamma Signaling and Neuroscience. The drug Dronabinol has been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotype is 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 30)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 14 11.8
2 mucopolysaccharidosis is 11.1
3 epileptic encephalopathy, early infantile, 6 10.9
4 epilepsy, nocturnal frontal lobe, 5 10.2 KCNT1 SCN2A
5 3-methylcrotonyl-coa carboxylase deficiency 10.1 SCN1A TBC1D24
6 encephalopathy 10.0
7 juvenile absence epilepsy 10.0 KCNT1 SCN2A
8 gingival disease 10.0 SCN2A TBC1D24
9 autosomal dominant nonsyndromic deafness 10.0 SCN1A TBC1D24
10 night blindness, congenital stationary , 1c, autosomal recessive 9.9 SLC12A5 TBC1D24
11 status epilepticus 9.9
12 spondylosis 9.8 KCNT1 SCN1A TBC1D24
13 spinocerebellar degeneration 9.8 SCN1A SCN2A
14 microcephaly 9.8
15 epilepsy 9.8
16 infantile epileptic encephalopathy 9.8
17 early myoclonic encephalopathy 9.8
18 childhood malignant schwannoma 9.8 SCN1A SCN2A TBC1D24
19 adolescence-adult electroclinical syndrome 9.8 SCN1A SCN2A TBC1D24
20 gaba aminotransferase deficiency 9.7 SCN1A SCN2A TBC1D24
21 epilepsy, generalized, with febrile seizures plus, type 5 9.7 SCN1A SCN2A TBC1D24
22 bone cancer 9.6 SCN1A SCN2A SLC12A5
23 gingival overgrowth 9.5 SCN1A SLC25A22
24 fainting 9.5 SCN1A SCN2A SLC25A22
25 mononeuritis multiplex 9.4 KCNT1 SCN1A SLC12A5 TBC1D24
26 epileptic encephalopathy, early infantile, 15 9.2 KCNT1 SCN1A SCN2A SLC25A22
27 childhood electroclinical syndrome 8.8 KCNT1 SCN1A SCN2A SLC25A22 TBC1D24
28 erythermalgia, primary 8.8 KCNT1 SCN1A SCN2A SLC25A22 TBC1D24
29 peyronie's disease 8.0 KCNT1 PLCB1 SCN1A SCN2A SLC25A22 TBC1D24
30 man1b1-cdg 7.4 KCNT1 PLCB1 SCN1A SCN2A SLC12A5 SLC25A22

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
id 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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078 2978

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 14 29

Anatomical Context for Malignant Migrating Partial Seizures of Infancy

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

39
Brain

Publications for Malignant Migrating Partial Seizures of Infancy

Articles related to Malignant Migrating Partial Seizures of Infancy:

id Title Authors Year
1
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. ( 23526554 )
2013
2
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. ( 23086397 )
2012
3
Therapeutic Hypothermia for Refractory Status Epilepticus in a Child with Malignant Migrating Partial Seizures of Infancy and SCN1A Mutation: A Case Report. ( 23667778 )
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
id 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.2800G> A (p.Ala934Thr) single nucleotide variant Pathogenic rs397515403 GRCh37 Chromosome 9, 138671275: 138671275
3 KCNT1 NM_020822.2(KCNT1): c.1421G> A (p.Arg474His) single nucleotide variant Pathogenic rs397515404 GRCh37 Chromosome 9, 138660694: 138660694
4 KCNT1 NM_020822.2(KCNT1): c.2280C> G (p.Ile760Met) single nucleotide variant Pathogenic/Likely pathogenic rs370521183 GRCh37 Chromosome 9, 138667192: 138667192
5 KCNT1 NM_020822.2(KCNT1): c.2794T> A (p.Phe932Ile) single nucleotide variant Pathogenic rs886044717 GRCh37 Chromosome 9, 138671269: 138671269
6 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh37 Chromosome 9, 138651532: 138651532
7 KCNT1 NM_020822.2(KCNT1): c.1546A> G (p.Met516Val) single nucleotide variant Pathogenic/Likely pathogenic rs886041691 GRCh37 Chromosome 9, 138661828: 138661828
8 SCN2A NM_021007.2(SCN2A): c.3967A> G (p.Met1323Val) single nucleotide variant Pathogenic rs1057519523 GRCh38 Chromosome 2, 165373342: 165373342

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 PLCB1 SCN1A SCN2A
2 11.84 SCN1A SCN2A SLC12A5
3
Show member pathways
11.52 KCNT1 PLCB1 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.72 KCNT1 SCN1A SCN2A SLC12A5 SLC25A22
2 sodium ion transmembrane transport GO:0035725 9.4 SCN1A SCN2A
3 regulation of postsynaptic membrane potential GO:0060078 9.37 SCN1A SCN2A
4 neuronal action potential GO:0019228 9.26 SCN1A SCN2A
5 transmembrane transport GO:0055085 9.26 SCN1A SCN2A SLC12A5 SLC25A22
6 membrane depolarization during action potential GO:0086010 9.16 SCN1A SCN2A
7 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:

id Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.16 SLC12A5 SLC25A22
2 sodium channel activity GO:0005272 8.96 SCN1A SCN2A
3 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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