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 49 24 55
Malignant Migrating Partial Epilepsy of Infancy 49 24 55
Early Infantile Epileptic Encephalopathy 14 49 24 28
Migrating Partial Epilepsy of Infancy 49 24 55
Migrating Partial Seizures of Infancy 49 24 55
Mmpsi 49 24 55
Migrating Partial Seizures in Infancy 49 24
Eiee14 49 24
Mmpei 49 55
Mpei 49 55
Mpsi 49 55
Malignant Migrating Partial Seizures in Infancy 36
Epileptic Encephalopathy, Early Infantile, 14 69

Characteristics:

Orphanet epidemiological data:

55
malignant migrating partial seizures of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA293181
KEGG 36 H01815
UMLS 69 C3554195

Summaries for Malignant Migrating Partial Seizures of Infancy

NIH Rare Diseases : 49 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 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 : 24 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 28)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 14 33.3 KCNT1 SCN2A
2 epileptic encephalopathy, early infantile, 6 30.1 KCNT1 SCN1A SCN2A SLC25A22 TBC1D24
3 encephalopathy 29.6 SCN1A SCN2A SLC25A22
4 early myoclonic encephalopathy 29.4 SCN1A SLC25A22
5 epilepsy 29.0 KCNT1 SCN1A SLC12A5 TBC1D24
6 scheie syndrome 11.2
7 adolescence-adult electroclinical syndrome 10.1 SCN1A TBC1D24
8 seizures, benign familial infantile, 3 10.0 SCN1A SCN2A
9 benign familial neonatal epilepsy 10.0 SCN2A TBC1D24
10 benign familial infantile epilepsy 10.0 KCNT1 SCN2A
11 agenesis of the corpus callosum with peripheral neuropathy 10.0 SLC12A5 TBC1D24
12 seizure disorder 9.9 SCN1A SCN2A
13 lennox-gastaut syndrome 9.9 SCN1A TBC1D24
14 status epilepticus 9.9
15 epileptic encephalopathy, early infantile, 3 9.9
16 congenital disorder of glycosylation, type in 9.9
17 epileptic encephalopathy, early infantile, 4 9.9
18 microcephaly 9.9
19 infantile epileptic encephalopathy 9.9
20 focal epilepsy 9.9 KCNT1 SCN1A TBC1D24
21 epilepsy with generalized tonic-clonic seizures 9.8 SCN1A SCN2A TBC1D24
22 infancy electroclinical syndrome 9.8 SCN1A SCN2A TBC1D24
23 generalized epilepsy with febrile seizures plus 9.8 SCN1A SCN2A TBC1D24
24 epilepsy, idiopathic generalized 10 9.7 SCN1A TBC1D24
25 epilepsy, idiopathic generalized 9.4 SCN1A SCN2A SLC12A5 TBC1D24
26 epileptic encephalopathy, early infantile, 15 9.4 KCNT1 SCN1A SCN2A SLC25A22
27 neonatal period electroclinical syndrome 9.3 SCN1A SCN2A SLC25A22 TBC1D24
28 west syndrome 8.5 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:

25 (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 2978

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 28 KCNT1

Anatomical Context for Malignant Migrating Partial Seizures of Infancy

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

38
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
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
# 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.1193G> A (p.Arg398Gln) single nucleotide variant Pathogenic rs397515407 GRCh37 Chromosome 9, 138657034: 138657034
6 KCNT1 NM_020822.2(KCNT1): c.2794T> A (p.Phe932Ile) single nucleotide variant Pathogenic rs886044717 GRCh37 Chromosome 9, 138671269: 138671269
7 KCNT1 NM_020822.2(KCNT1): c.862G> A (p.Gly288Ser) single nucleotide variant Pathogenic rs587777264 GRCh37 Chromosome 9, 138651532: 138651532
8 KCNT1 NM_020822.2(KCNT1): c.1546A> G (p.Met516Val) single nucleotide variant Pathogenic/Likely pathogenic rs886041691 GRCh37 Chromosome 9, 138661828: 138661828
9 SCN2A NM_021007.2(SCN2A): c.3967A> G (p.Met1323Val) single nucleotide variant Pathogenic rs1057519523 GRCh38 Chromosome 2, 165373342: 165373342
10 KCNT1 NM_020822.2(KCNT1): c.2687T> G (p.Met896Arg) single nucleotide variant Pathogenic rs1060503696 GRCh38 Chromosome 9, 135778780: 135778780

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 11.86 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 transport GO:0006810 9.77 KCNT1 SCN1A SCN2A SLC12A5 SLC25A22
2 transmembrane transport GO:0055085 9.46 SCN1A SCN2A SLC12A5 SLC25A22
3 sodium ion transmembrane transport GO:0035725 9.43 SCN1A SCN2A
4 regulation of postsynaptic membrane potential GO:0060078 9.4 SCN1A SCN2A
5 neuronal action potential GO:0019228 9.32 SCN1A SCN2A
6 membrane depolarization during action potential GO:0086010 9.26 SCN1A SCN2A
7 regulation of ion transmembrane transport GO:0034765 9.13 KCNT1 SCN1A SCN2A
8 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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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