The Sarnat stages allow staging of the severity of neonatal hypoxic-ischemic encephalopathy. ESESCSWS Landau-Kleffner Epilepsy-aphasia
- Penelope (Status epilepticus).
- Epileptic encephalopathy (Continuous spike-wave during sleep).
- Landau-Kleffner syndrome, or the epilepsy-aphasia spectrum, and status epilepticus in slow-wave sleep, are age-dependent developmental and epileptic encephalopathies associated with continuous spike-wave during sleep (ESES), characterized by cognitive and behavioral regression, where the primary neurological deficit is a receptive aphasia (Landau-Kleffner) or global neuropsychological impairment (ESES).These are rare diseases that typically present in school-age children.).
19955111
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statussuccessupdateneededfalseinstancefalsemetarequest_last 0request_next0used_cachetruedatakeyJMSPQW4Nlibrary id19955111metacreatorSummaryDaguenetetal.parsedDate2015-12% 2CnumChildren0bibltdivclassquotcsl-bib-bodyquotstylequotline-he ight1.35quotgtnltdivclassquotcsl-entryquotstylequotclear leftquotgtnltdivclassquotcsl-left-marginquotstylequot% 3Bfloatleftpadding-right0.5emtext-alignrightwidth1emquotgt1.lt divgtltdivclassquotcsl-right-inlinequotstylequotmargin0.4em01.5 emquotgtDaguenetEDujardinGValcxE1rcelJ.Thepathogenicityofsplicing defectsmechanisticinsightsintopre-mRNAprocessinginformnoveltherapeuticapproaches.EMBOrepo rtsInternet.2015Deccited2022Nov316121640x201355.Availablefrom% 20ltaclass039zp-ItemURL039href039httpswww.embopress.orgdoi%5 Cfull10.15252embr.201541116039gthttpswww.embopress.orgdoifull1 0.15252ebruary201541116ltagtltdivgtnltdivgtnlt% 2FdivgtdataitemTypejournalArticletitleThepathogenicityofsplici ngdefectsmechanisticinsightsintopre-mRNAprocessinginformnoveltherapeuticapproachescr eatorscreatorTypeauthorfirstNameElisabethlastNameDaguenet%2 CcreatorTypeauthorfirstNameGwendallastNameDujardincreatorTy peauthorfirstNameJuanlastNameValcu00e1rcelabstractNote%2 2AbstractRemovalofintronsfrompre-mRNAprecursorspre-mRNAsplicingisanecessarystepfo rtheexpressionofmostgenesinmulticellularorganismsandalternativepatternsofintronr emovaldiversifyandregulatetheoutputofgenomicinformation.Mutationornaturalvariationin pre-mRNAsequencesaswellasinspliceosomalcomponentsandregulatoryfactorshasbeenimpl icatedintheetiologyandprogressionofnumerouspathologies.Theserangefrommonogenictomult iffactorygeneticdiseasesincludingmetabolicsyndromesmusculardystrophiesneurodegenerativea ndcardiovasculardiseasesandcancer.Understandingthemolecularmechanismsassociatedwithsplicin g-relatedpathologiescanprovidekeyinsightsintothenormalfunctionandphysiologicalcontexto fthecomplexsplicingmachineryandestablishsoundbasisfornoveltherapeuticapproaches.d ate2015-12sectionpartNumberpartTitleDOI10.15 252embr.201541116citationKeyurlhttpswww.embopress.orgdoif ull10.15252ebruary 201541116PMIDPMCIDISSN1469-221Xlan guagecollections8PUZ7DEQdateModified2026-05-09T202950Z
1.
Daguenet E, Dujardin G, Valcárcel J. The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches. EMBO reports [Internet]. 2015 Dec [cited 2022 Nov 3];16(12):1640–55. Available from: In trans.