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Malignant migrating partial seizures of infancy

MedGen UID:
782160
Concept ID:
C3494976
Disease or Syndrome
Synonym: Migrating partial seizures in infancy
SNOMED CT: MMPSI - malignant migrating partial seizures of infancy (784345005); Malignant migrating partial epilepsy of infancy (784345005); Malignant migrating partial seizures of infancy (784345005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0017385
Orphanet: ORPHA293181

Definition

A rare genetic neonatal epilepsy syndrome disease with characteristics of onset in the first 6 months of life of almost continuous migrating polymorphous focal seizures with corresponding multifocal ictal electroencephalographic discharges, progressive deterioration of psychomotor development and usually early mortality. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMalignant migrating partial seizures of infancy

Professional guidelines

PubMed

Nickels KC, Wirrell EC
CNS Drugs 2017 May;31(5):405-416. doi: 10.1007/s40263-017-0432-1. PMID: 28434133

Recent clinical studies

Etiology

Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A
Hum Mutat 2013 Jun;34(6):869-72. Epub 2013 Apr 12 doi: 10.1002/humu.22318. PMID: 23526554
Helbig I, Lowenstein DH
Curr Opin Neurol 2013 Apr;26(2):179-85. doi: 10.1097/WCO.0b013e32835ee6ff. PMID: 23429546Free PMC Article

Diagnosis

Marakhonov AV, Přechová M, Konovalov FA, Filatova AY, Zamkova MA, Kanivets IV, Solonichenko VG, Semenova NA, Zinchenko RA, Treisman R, Skoblov MY
Clin Genet 2021 May;99(5):673-683. Epub 2021 Jan 27 doi: 10.1111/cge.13926. PMID: 33463715Free PMC Article
Niday Z, Tzingounis AV
Neuroscientist 2018 Aug;24(4):368-380. Epub 2018 Mar 15 doi: 10.1177/1073858418763752. PMID: 29542386Free PMC Article
Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A
Hum Mutat 2013 Jun;34(6):869-72. Epub 2013 Apr 12 doi: 10.1002/humu.22318. PMID: 23526554
Helbig I, Lowenstein DH
Curr Opin Neurol 2013 Apr;26(2):179-85. doi: 10.1097/WCO.0b013e32835ee6ff. PMID: 23429546Free PMC Article
Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R
Nat Genet 2012 Nov;44(11):1255-9. Epub 2012 Oct 21 doi: 10.1038/ng.2441. PMID: 23086397Free PMC Article

Therapy

M Qunies A, A Emmitte K
Pharm Pat Anal 2022 Mar;11(2):45-56. Epub 2022 Apr 4 doi: 10.4155/ppa-2022-0002. PMID: 35369761Free PMC Article
Madaan P, Jauhari P, Gupta A, Chakrabarty B, Gulati S
Brain Dev 2018 Mar;40(3):229-232. Epub 2017 Oct 14 doi: 10.1016/j.braindev.2017.09.008. PMID: 29037447
Qu J, Zhang Y, Yang ZQ, Mao XY, Zhou BT, Yin JY, He H, Li XP, Long HY, Lv N, Xu XJ, Xiao B, Zhang Y, Tang Q, Hu DL, Zhou HH, Liu ZQ
CNS Neurosci Ther 2014 Feb;20(2):140-6. Epub 2013 Nov 27 doi: 10.1111/cns.12169. PMID: 24279416Free PMC Article
Merdariu D, Delanoë C, Mahfoufi N, Bellavoine V, Auvin S
Brain Dev 2013 Feb;35(2):177-80. Epub 2012 Apr 20 doi: 10.1016/j.braindev.2012.03.016. PMID: 22521903
Vendrame M, Poduri A, Loddenkemper T, Kluger G, Coppola G, Kothare SV
Epileptic Disord 2011 Mar;13(1):18-21. doi: 10.1684/epd.2011.0406. PMID: 21393094

Prognosis

Madaan P, Jauhari P, Gupta A, Chakrabarty B, Gulati S
Brain Dev 2018 Mar;40(3):229-232. Epub 2017 Oct 14 doi: 10.1016/j.braindev.2017.09.008. PMID: 29037447
De Filippo MR, Rizzo F, Marchese G, Giurato G, Nassa G, Ravo M, Tarallo R, Pironti E, Vecchi M, Crichiutti G, Capizzi G, Verrotti A, Weisz A, Coppola G
Epilepsy Res 2014 Feb;108(2):340-4. Epub 2013 Nov 16 doi: 10.1016/j.eplepsyres.2013.11.007. PMID: 24315024
Merdariu D, Delanoë C, Mahfoufi N, Bellavoine V, Auvin S
Brain Dev 2013 Feb;35(2):177-80. Epub 2012 Apr 20 doi: 10.1016/j.braindev.2012.03.016. PMID: 22521903
Vendrame M, Poduri A, Loddenkemper T, Kluger G, Coppola G, Kothare SV
Epileptic Disord 2011 Mar;13(1):18-21. doi: 10.1684/epd.2011.0406. PMID: 21393094

Clinical prediction guides

De Filippo MR, Rizzo F, Marchese G, Giurato G, Nassa G, Ravo M, Tarallo R, Pironti E, Vecchi M, Crichiutti G, Capizzi G, Verrotti A, Weisz A, Coppola G
Epilepsy Res 2014 Feb;108(2):340-4. Epub 2013 Nov 16 doi: 10.1016/j.eplepsyres.2013.11.007. PMID: 24315024

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