MPEI
MCID: MLG120
MIFTS: 44

Malignant Migrating Partial Seizures of Infancy (MPEI)

Categories: Cancer diseases, Neuronal diseases, Rare 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 20 43 58 29 6
Malignant Migrating Partial Epilepsy of Infancy 20 43 58
Migrating Partial Epilepsy of Infancy 20 43 58
Migrating Partial Seizures of Infancy 20 43 58
Mmpsi 20 43 58
Epilepsy of Infancy with Migrating Focal Seizures 20 58
Malignant Migrating Focal Seizures of Infancy 20 58
Early Infantile Epileptic Encephalopathy 14 20 43
Migrating Partial Seizures in Infancy 20 43
Eiee14 20 43
Mmpei 20 58
Mpei 20 58
Mpsi 20 58
Malignant Migrating Partial Seizures in Infancy 36
Epileptic Encephalopathy, Early Infantile, 14 70

Characteristics:

Orphanet epidemiological data:

58
malignant migrating focal seizures of infancy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

KEGG 36 H01815
Orphanet 58 ORPHA293181
UMLS 70 C3554195

Summaries for Malignant Migrating Partial Seizures of Infancy

MedlinePlus Genetics : 43 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.The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. Depending on the region affected, seizures can involve sudden redness and warmth (flushing) of the face; drooling; short pauses in breathing (apnea); movement of the head or eyes to one side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, leg, or both on one side of the body. If seizure activity spreads to affect the entire brain, it causes a loss of consciousness, muscle stiffening, and rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.Initially, the seizures associated with MMPSI are relatively infrequent, occurring every few weeks. Within a few months of the seizures starting, though, the frequency increases. Affected individuals can have clusters of five to 30 seizures several times a day. Each seizure typically lasts seconds to a couple of minutes, but they can be prolonged (classified as status epilepticus). In some cases, the seizure activity may be almost continuous for several days. After a year or more of persistent seizures, the episodes become less frequent.Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the mental and motor skills they developed after birth, such as the ability to make eye contact and control their head movement. Many have weak muscle tone (hypotonia) and become "floppy." If seizures can be controlled for a short period, development may improve. Some affected children learn to reach for objects or walk. However, most children with this condition do not develop language skills.Because of the serious health problems caused by MMPSI, many affected individuals do not survive past infancy or early childhood.

MalaCards based summary : Malignant Migrating Partial Seizures of Infancy, also known as malignant migrating partial epilepsy of infancy, is related to developmental and epileptic encephalopathy 14 and seizure disorder, 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 drugs Clopidogrel and Ticagrelor have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and tongue.

GARD : 20 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.

KEGG : 36 Malignant migrating partial seizures in infancy (MMPSI) are rare, severe early infantile onset epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life, occurrence of migrating polymorphic focal seizures, and progressive deterioration of psychomotor development. Seizures in MMPSI are refractory to conventional treatment with anti-epileptic drugs (AEDs). Early and multiple video/EEG recordings are critical to detect the characteristic multifocal and asynchronous long lasting ictal discharges and are essential for MMPSI diagnosis. MMPSI is a genetically heterogeneous disorder with few known etiologies. Recently, mutations of several genes have been reported in sporadic cases of MMPSI.

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 top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 14 32.7 SCN2A SCN1A KCNT1
2 seizure disorder 30.5 TBC1D24 SCN2A SCN1A LOC102724058
3 developmental and epileptic encephalopathy 34 30.4 SLC12A5 LOC113960611
4 benign familial infantile epilepsy 30.4 SCN2A SCN1A KCNT1
5 autosomal dominant nocturnal frontal lobe epilepsy 30.3 SCN2A SCN1A KCNT1
6 febrile seizures 30.1 SCN2A SCN1A LOC102724058
7 developmental and epileptic encephalopathy 1 30.0 TBC1D24 SLC25A22 SCN1A
8 ohtahara syndrome 29.8 SLC25A22 SCN2A SCN1A LOC102724058
9 lennox-gastaut syndrome 29.7 SLC25A22 SCN2A SCN1A KCNT1
10 alacrima, achalasia, and mental retardation syndrome 29.7 TBC1D24 SCN2A SCN1A LOC102724058
11 encephalopathy 29.7 SLC25A22 SCN2A SCN1A KCNT1
12 focal epilepsy 29.7 TBC1D24 SCN2A SCN1A LOC102724058 KCNT1
13 early myoclonic encephalopathy 29.4 TBC1D24 SLC25A22 SCN2A SCN1A KCNT1
14 epilepsy 29.3 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
15 dravet syndrome 28.6 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A LOC102724058
16 west syndrome 28.1 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
17 early infantile epileptic encephalopathy 27.7 TBC1D24 SLC25A22 SLC12A5 SCN2A SCN1A PLCB1
18 developmental and epileptic encephalopathy 57 11.4
19 developmental and epileptic encephalopathy 12 11.3
20 scn1a-related seizure disorders 11.3
21 scheie syndrome 11.0
22 hypotonia 10.6
23 microcephaly 10.6
24 slc12a5-related epilepsy of infancy with migrating focal seizures 10.5
25 status epilepticus 10.4
26 rigidity and multifocal seizure syndrome, lethal neonatal 10.4
27 scoliosis 10.4
28 developmental and epileptic encephalopathy 10.4
29 movement disease 10.4
30 spasticity 10.4
31 rare epilepsy 10.3
32 gastroesophageal reflux 10.3
33 hand skill, relative 10.3
34 seizures, benign familial infantile, 3 10.3
35 developmental and epileptic encephalopathy 3 10.3
36 developmental and epileptic encephalopathy 11 10.3
37 cyanosis, transient neonatal 10.3
38 developmental and epileptic encephalopathy 45 10.3
39 episodic ataxia, type 9 10.3
40 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.3
41 ptosis 10.3
42 tubulinopathy 10.3
43 kcnq2-related disorders 10.3
44 hypertonia 10.3
45 epilepsy, nocturnal frontal lobe, 5 10.2
46 developmental and epileptic encephalopathy 16 10.2
47 ciliary dyskinesia, primary, 28 10.2
48 deafness, autosomal dominant 65 10.2
49 hypokalemia 10.2
50 kcnt1-related epilepsy 10.2

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

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
Clopidogrel Approved 113665-84-2, 120202-66-6 60606
2
Ticagrelor Approved 274693-27-5 9871419

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Ticagrelor and Clopidogrel on Coronary Microcirculation in Patients With Acute Myocardial Infarction Completed NCT03104062

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 Malignant Migrating Partial Seizures of Infancy 29

Anatomical Context for Malignant Migrating Partial Seizures of Infancy

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

40
Brain, Eye, Tongue, Cortex

Publications for Malignant Migrating Partial Seizures of Infancy

Articles related to Malignant Migrating Partial Seizures of Infancy:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 61 6
23526554 2013
2
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 6 61
23086397 2012
3
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. 6
30868116 2019
4
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 6
29390993 2018
5
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. 6
29196579 2018
6
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
7
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6
29100083 2017
8
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy. 6
27779742 2017
9
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 6
28292732 2017
10
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 6
28428906 2017
11
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 6
27652284 2016
12
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. 6
27436767 2016
13
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
14
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 6
26740507 2016
15
A targeted resequencing gene panel for focal epilepsy. 6
27029629 2016
16
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. 6
26597493 2016
17
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
18
Quinidine in the treatment of KCNT1-positive epilepsies. 6
26369628 2015
19
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 6
25590979 2015
20
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. 6
26333769 2015
21
Mutations in KCNT1 cause a spectrum of focal epilepsies. 6
26122718 2015
22
De novo KCNT1 mutations in early-onset epileptic encephalopathy. 6
26140313 2015
23
Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation. 6
26269628 2015
24
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
25
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 6
25769375 2015
26
Human slack potassium channel mutations increase positive cooperativity between individual channels. 6
25482562 2014
27
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
28
Targeted treatment of migrating partial seizures of infancy with quinidine. 6
25042079 2014
29
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 6
24591078 2014
30
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 6
24120652 2014
31
A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. 6
27081515 2014
32
A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 6
24029078 2013
33
TBC1D24 truncating mutation resulting in severe neurodegeneration. 6
23343562 2013
34
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 6
23086396 2012
35
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 6
21087195 2010
36
VU0606170, a Selective Slack Channels Inhibitor, Decreases Calcium Oscillations in Cultured Cortical Neurons. 61
33143429 2020
37
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel. 61
32038177 2020
38
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox. 61
29542386 2018
39
A quinidine non responsive novel KCNT1 mutation in an Indian infant with epilepsy of infancy with migrating focal seizures. 61
29037447 2018
40
Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy. 61
26784557 2016
41
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 61
24888894 2014
42
Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. 61
24279416 2014
43
Genetic heterogeneity in malignant migrating partial seizures of infancy. 61
24243345 2014
44
Lack of pathogenic mutations in six patients with MMPSI. 61
24315024 2014
45
KCNT1 mutations in ADNFLE and MMPSI: a new driver in the etiology and pathophysiology of early-onset epileptic syndromes. 61
23278465 2013
46
Genetics of the epilepsies: where are we and where are we going? 61
23429546 2013
47
Malignant migrating partial seizures of infancy controlled by stiripentol and clonazepam. 61
22521903 2013
48
Malignant migrating partial seizures in infancy. 61
23622207 2013
49
[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 61
23612406 2013
50
A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy. 61
22197566 2012

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 873)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNT1 NM_020822.3(KCNT1):c.2794T>A (p.Phe932Ile) SNV Pathogenic 92165 rs886044717 GRCh37: 9:138671269-138671269
GRCh38: 9:135779423-135779423
2 SLC12A5 NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) SNV Pathogenic 217905 rs863225305 GRCh37: 20:44674530-44674530
GRCh38: 20:46045891-46045891
3 SLC12A5 NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) SNV Pathogenic 217906 rs863225306 GRCh37: 20:44669976-44669976
GRCh38: 20:46041337-46041337
4 SLC12A5 NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) SNV Pathogenic 217904 rs863225304 GRCh37: 20:44671933-44671933
GRCh38: 20:46043294-46043294
5 KCNT1 NM_020822.3(KCNT1):c.2687T>G (p.Met896Arg) SNV Pathogenic 412308 rs1060503696 GRCh37: 9:138670626-138670626
GRCh38: 9:135778780-135778780
6 TBC1D24 NM_020705.3(TBC1D24):c.966-529GT[2] Microsatellite Pathogenic 56845 rs398122941 GRCh37: 16:2547710-2547711
GRCh38: 16:2497709-2497710
7 KCNT1 NM_020822.3(KCNT1):c.2849G>T (p.Arg950Leu) SNV Pathogenic 473378 rs886043455 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
8 SLC12A5 NM_020708.5(SLC12A5):c.980dup (p.Asn328fs) Duplication Pathogenic 475662 rs1555863593 GRCh37: 20:44670092-44670093
GRCh38: 20:46041453-46041454
9 SLC12A5 NM_020708.5(SLC12A5):c.706_707TG[2] (p.Val237fs) Microsatellite Pathogenic 542316 rs1555863145 GRCh37: 20:44669105-44669106
GRCh38: 20:46040466-46040467
10 SLC12A5 NM_020708.5(SLC12A5):c.279+1G>C SNV Pathogenic 623492 rs1568858867 GRCh37: 20:44664175-44664175
GRCh38: 20:46035536-46035536
11 SLC12A5 NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val) SNV Pathogenic 623493 rs1568859798 GRCh37: 20:44665984-44665984
GRCh38: 20:46037345-46037345
12 SLC12A5 NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser) SNV Pathogenic 623494 rs1259210706 GRCh37: 20:44670066-44670066
GRCh38: 20:46041427-46041427
13 SLC12A5 NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro) SNV Pathogenic 623495 rs1220094830 GRCh37: 20:44670080-44670080
GRCh38: 20:46041441-46041441
14 SLC12A5 NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu) SNV Pathogenic 623496 rs1568862550 GRCh37: 20:44671852-44671852
GRCh38: 20:46043213-46043213
15 SLC12A5 NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) SNV Pathogenic 623497 rs368484023 GRCh37: 20:44672277-44672277
GRCh38: 20:46043638-46043638
16 SLC12A5 NM_020708.5(SLC12A5):c.2239_2241TCC[1] (p.Ser748del) Microsatellite Pathogenic 623498 rs1568866916 GRCh37: 20:44680370-44680372
GRCh38: 20:46051731-46051733
17 SLC12A5 NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu) SNV Pathogenic 623499 rs750336750 GRCh37: 20:44682239-44682239
GRCh38: 20:46053600-46053600
18 KCNT1 NM_020822.3(KCNT1):c.2717A>G (p.Gln906Arg) SNV Pathogenic 655949 rs1588385233 GRCh37: 9:138670656-138670656
GRCh38: 9:135778810-135778810
19 SLC12A5 NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter) SNV Pathogenic 659657 rs1600590580 GRCh37: 20:44663649-44663649
GRCh38: 20:46035010-46035010
20 SLC12A5 NC_000020.11:g.(?_46045858)_(46046456_?)del Deletion Pathogenic 833486 GRCh37: 20:44674497-44675095
GRCh38:
21 SLC12A5 NM_020708.5(SLC12A5):c.266del (p.Lys89fs) Deletion Pathogenic 856637 GRCh37: 20:44664156-44664156
GRCh38: 20:46035517-46035517
22 SLC12A5 NM_020708.5(SLC12A5):c.2250dup (p.Arg751fs) Duplication Pathogenic 848475 GRCh37: 20:44680381-44680382
GRCh38: 20:46051742-46051743
23 KCNT1 NM_020822.3(KCNT1):c.2943+1G>C SNV Pathogenic 853172 GRCh37: 9:138675972-138675972
GRCh38: 9:135784126-135784126
24 KCNT1 NM_020822.3(KCNT1):c.1038C>G (p.Phe346Leu) SNV Pathogenic 853550 GRCh37: 9:138656879-138656879
GRCh38: 9:135765033-135765033
25 SLC12A5 and overlap with 1 gene(s) NC_000020.11:g.(?_46021746)_(46057625_?)del Deletion Pathogenic 833121 GRCh37: 20:44650385-44686264
GRCh38:
26 SLC12A5 NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter) SNV Pathogenic 934757 GRCh37: 20:44658007-44658007
GRCh38: 20:46029368-46029368
27 SLC12A5 NM_020708.5(SLC12A5):c.42dup (p.Ala15fs) Duplication Pathogenic 938667 GRCh37: 20:44658024-44658025
GRCh38: 20:46029385-46029386
28 SCN2A NM_001040142.2(SCN2A):c.3967A>G (p.Met1323Val) SNV Pathogenic 375505 rs1057519523 GRCh37: 2:166229852-166229852
GRCh38: 2:165373342-165373342
29 KCNT1 NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) SNV Pathogenic 575241 GRCh37: 9:138675924-138675924
GRCh38: 9:135784078-135784078
30 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 GRCh37: 9:138651532-138651532
GRCh38: 9:135759686-135759686
31 KCNT1 NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) SNV Pathogenic 126421 rs587777264 GRCh37: 9:138651532-138651532
GRCh38: 9:135759686-135759686
32 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
33 KCNT1 NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) SNV Pathogenic 265210 rs866242631 GRCh37: 9:138660693-138660693
GRCh38: 9:135768847-135768847
34 KCNT1 NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) SNV Pathogenic 286710 GRCh37: 9:138675877-138675877
GRCh38: 9:135784031-135784031
35 KCNT1 NM_020822.3(KCNT1):c.1546A>G (p.Met516Val) SNV Pathogenic 280499 rs886041691 GRCh37: 9:138661828-138661828
GRCh38: 9:135769982-135769982
36 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 GRCh37: 9:138671275-138671275
GRCh38: 9:135779429-135779429
37 KCNT1 NM_020822.3(KCNT1):c.2280C>G (p.Ile760Met) SNV Pathogenic 39596 rs370521183 GRCh37: 9:138667192-138667192
GRCh38: 9:135775346-135775346
38 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic 39595 GRCh37: 9:138660694-138660694
GRCh38: 9:135768848-135768848
39 KCNT1 NM_020822.3(KCNT1):c.2800G>A (p.Ala934Thr) SNV Pathogenic 39594 rs397515403 GRCh37: 9:138671275-138671275
GRCh38: 9:135779429-135779429
40 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 GRCh37: 9:138657552-138657552
GRCh38: 9:135765706-135765706
41 KCNT1 NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) SNV Pathogenic 39593 GRCh37: 9:138657552-138657552
GRCh38: 9:135765706-135765706
42 KCNT1 NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) SNV Pathogenic 39597 rs397515405 GRCh37: 9:138671257-138671257
GRCh38: 9:135779411-135779411
43 KCNT1 NM_020822.3(KCNT1):c.785G>A (p.Arg262Gln) SNV Pathogenic 432096 rs1554771469 GRCh37: 9:138650285-138650285
GRCh38: 9:135758439-135758439
44 TBC1D24 NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) SNV Pathogenic 56846 rs397514713 GRCh37: 16:2546835-2546835
GRCh38: 16:2496834-2496834
45 TBC1D24 NM_001199107.2(TBC1D24):c.468C>A (p.Cys156Ter) SNV Pathogenic 56847 rs397514714 GRCh37: 16:2546617-2546617
GRCh38: 16:2496616-2496616
46 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 GRCh37: 9:138657034-138657034
GRCh38: 9:135765188-135765188
47 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic 39599 rs397515407 GRCh37: 9:138657034-138657034
GRCh38: 9:135765188-135765188
48 KCNT1 NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) SNV Pathogenic 39598 rs397515406 GRCh37: 9:138669220-138669220
GRCh38: 9:135777374-135777374
49 KCNT1 NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) SNV Pathogenic/Likely pathogenic 39595 GRCh37: 9:138660694-138660694
GRCh38: 9:135768848-135768848
50 KCNT1 NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) SNV Likely pathogenic 129360 rs200694691 GRCh37: 9:138675910-138675910
GRCh38: 9:135784064-135784064

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 SLC12A5 SCN2A SCN1A
2
Show member pathways
11.52 SCN2A SCN1A PLCB1 KCNT1
3
Show member pathways
11.13 SCN2A SCN1A
4 10.43 SCN2A SCN1A

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 SCN2A SCN1A
2 T-tubule GO:0030315 9.26 SCN2A SCN1A
3 voltage-gated sodium channel complex GO:0001518 9.16 SCN2A SCN1A
4 node of Ranvier GO:0033268 8.96 SCN2A SCN1A
5 sodium channel complex GO:0034706 8.62 SCN2A SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.56 SLC25A22 SLC12A5 SCN2A SCN1A
2 memory GO:0007613 9.37 SCN2A PLCB1
3 cation transmembrane transport GO:0098655 9.32 SCN2A SCN1A
4 neuronal action potential GO:0019228 9.16 SCN2A SCN1A
5 ion transport GO:0006811 9.02 SLC25A22 SLC12A5 SCN2A SCN1A KCNT1
6 membrane depolarization during action potential GO:0086010 8.96 SCN2A SCN1A

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

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.16 SCN2A SCN1A
2 sodium channel activity GO:0005272 8.96 SCN2A SCN1A
3 voltage-gated sodium channel activity GO:0005248 8.62 SCN2A SCN1A

Sources for Malignant Migrating Partial Seizures of Infancy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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