Microcephaly, seizures, and developmental delay
Senast uppdaterad 18 aug 2020
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Microcephaly, seizures, and developmental delay (MCSZ) is a condition characterised by an abnormally small head size (microcephaly) and neurological problems related to impaired brain development before birth. Affected individuals typically have recurrent seizures (epilepsy) beginning in infancy and delayed development of motor skills, such as sitting and walking. Speech is also delayed, and some affected individuals are never able to speak. Intellectual disability and behaviour problems, primarily hyperactivity, are also common features of MCSZ. Rarely, individuals with MCSZ also have poor balance and coordination (ataxia).
Beskrivning
Microcephaly, seizures, and developmental delay (MCSZ) is a condition characterised by an abnormally small head size (microcephaly) and neurological problems related to impaired brain development before birth. Affected individuals typically have recurrent seizures (epilepsy) beginning in infancy and delayed development of motor skills, such as sitting and walking. Speech is also delayed, and some affected individuals are never able to speak. Intellectual disability and behaviour problems, primarily hyperactivity, are also common features of MCSZ. Rarely, individuals with MCSZ also have poor balance and coordination (ataxia).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
EIEE10
Epileptic encephalopathy, early infantile, 10
MCSZ
Related patient information and medicines
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There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. Developmental delay in a child (this means that the child's 'milestones' of development are later than usual). Types of muscular dystrophy Duchenne muscular dystrophy (DMD) Duchenne muscular dystrophy (DMD) is the most common.
Patient information leaflet
Fetalt antikonvulsivt syndrom
Fetal anticonvulsant syndrome (FACS) - also known as fetal valproate syndrome och fetal hydantoin syndrome - is a group of malformations that can affect some babies if they are exposed to certain medicines known as antiepileptic drugs (AEDs) while in the womb. Most women with epilepsy will have a healthy child. Women with epilepsy who are pregnant.
Patient information leaflet
Feberkramper
A febrile seizure is a convulsion that occurs in some children with a hög temperatur (fever). The vast majority of febrile seizures are not serious. What causes a febrile seizure. A febrile seizure is sometimes called a febrile convulsion. Any illness that causes a high temperature (fever) can cause a febrile seizure. Most occur with common.
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6-i-1-vaccin
The 6-in-1 vaccine is part of routine childhood immunisations and protects babies against six different serious illnesses. Further boosters without a... This leaflet explains when this vaccine is given and why. A dose of vaccine may be delayed if a child is ill with a high temperature (fever). The vaccine should be delayed in babies who have had.
Patient information leaflet
Vaccination
Normal immunisation schedule UK 2026 Immunisation Schedule This is the complete routine immunisation schedule and includes the childhood immunisation schedule, including the routine injections for babies, children aged 1 year, children in their pre-school year, vaccines offered whilst at school, vaccines for pregnant women and the immunisatio....
Patient information leaflet
För tidigt födda barn
Premature babies are born too early, before they have fully developed in the womb. They often need extra or intensive medical care and support while their organs continue to develop to a point where they can survive without specialist help. ... Premature babies are more at risk of the following health conditions: Developmental delay - for example,.
Vidare läsning och referenser
- Microcephaly, seizures, and developmental delay; MedlinePlus, National Library of Medicine.
- Dumitrache LC, McKinnon PJ. Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease. Mech Ageing Dev. 2017 Jan;161(Pt A):121-129. doi: 10.1016/j.mad.2016.04.009. Epub 2016 Apr 26.
- Poulton C, Oegema R, Heijsman D, Hoogeboom J, Schot R, Stroink H, Willemsen MA, Verheijen FW, van de Spek P, Kremer A, Mancini GM. Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics. 2013 Feb;14(1):43-51. doi: 10.1007/s10048-012-0351-8. Epub 2012 Dec 9.
- Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012 Aug;40(14):6608-19. doi: 10.1093/nar/gks318. Epub 2012 Apr 15.
- Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar;42(3):245-9. doi: 10.1038/ng.526. Epub 2010 Jan 31.
- Shimada M, Dumitrache LC, Russell HR, McKinnon PJ. Polynucleotide kinase-phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability. EMBO J. 2015 Oct 1;34(19):2465-80. doi: 10.15252/embj.201591363. Epub 2015 Aug 19.
- Weinfeld M, Mani RS, Abdou I, Aceytuno RD, Glover JN. Tidying up loose ends: the role of polynucleotide kinase/phosphatase in DNA strand break repair. Trends Biochem Sci. 2011 May;36(5):262-71. doi: 10.1016/j.tibs.2011.01.006. Epub 2011 Feb 25.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Jun 2018 | Ursprungligen publicerad
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