Have a personal or library account? Click to login
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus Cover

TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus

Open Access
|Apr 2017

References

  1. 1
    LozsadiDMyoclonus: a pragmatic approachPract Neurol201212215224doi: 10.1136/practneurol-2011-00010722869763
  2. 2
    CavinessJNAlvingLIMaraganoreDMBlackRAMcDonnellSKRoccaWAThe incidence and prevalence of myoclonus in Olmsted County, MinnesotaMayo Clin Proc199974565569doi: 10.4065/74.6.56510377930
  3. 3
    ZaraFGennearoEStabileMet alMapping of a locus for a familial autosomal recessive idiopathic recessive myoclonic epilepsy of infancy to chromosome 16p13Am J Hum Genet20006615521557doi: 10.1086/30287610741954
  4. 4
    de FalcoFAMajelloLSantangeloRStabileMBricarelliFDZaraFFamilial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritanceEpilepsia20014215411548doi: 10.1046/j.1528-1157.2001.26701.x11879364
  5. 5
    FalaceAFilipelloFLa PadulaVet alTBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAm J Hum Genet201087365370doi: 10.1016/j.ajhg.2010.07.02020727515
  6. 6
    PoulatALVilleDde BellescizeJet alHomozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disabilityEpilepsy Res20151117277doi: 10.1016/j.eplepsyres.2015.01.00825769375
  7. 7
    CorbettMABahloMJollyLet alA focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Am J Hum Genet201087371375doi: 10.1016/j.ajhg.2010.08.00120797691
  8. 8
    AfawiZMandelstamSKorczynADet alTBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformationEpilepsy Res2013105240244doi: 10.1016/j.eplepsyres.2013.02.00523517570
  9. 9
    MilhMFalaceAVilleneuveNet alNovel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancyHum Mutat201334869872doi: 10.1002/humu.2231823526554
  10. 10
    DuruNIseriSASelçukNTolunAEarly-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3J Neurogenet201024207215doi: 10.3109/01677063.2010.51436821087195
  11. 11
    GuvenATolunATBC1D24 truncating mutation resulting in severe neurodegenerationJ Med Genet201350199202doi: 10.1136/jmedgenet-2012-10131323343562
  12. 12
    StražišarBGNeubauerDParo PanjanDWritzlKEarly-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutationsEur J Paediatr Neurol201519251256doi: 10.1016/j.ejpn.2014.12.01125557349
  13. 13
    BalestriniSMilhMCastiglioniCet alTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresNeurology2016877785doi: 10.1212/WNL.000000000000280727281533
  14. 14
    RehmanAUSantos-CortezRLMorellRJet alMutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86Am J Hum Genet201494144152doi: 10.1016/j.ajhg.2013.12.00424387994
  15. 15
    BakhchaneACharifMSalimeSet alRecessive TBC1D24 mutations are frequent in Moroccan non-syndromic hearing loss pedigreesPLoS ONE201510e0138072doi: 10.1371/journal.pone.013807226371875
  16. 16
    AzaiezHBoothKTBuFet alTBC1D24 mutation causes autosomal-dominant nonsyndromic hearing lossHum Mutat201435819823doi: 10.1002/humu.2255724729539
  17. 17
    ZhangLHuLChaiYPangXYangTWuHA dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairmentHum Mutat201435814818doi: 10.1002/humu.2255824729547
  18. 18
    CampeauPMKasperaviciuteDLuJTet alThe genetic basis of DOORS syndrome: an exome-sequencing studyLancet Neurol2014134458doi: 10.1016/S1474-4422(13)70265-524291220
  19. 19
    BelkadiABolzeAItanYet alWhole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variantsProc Natl Acad Sci USA201511254735478doi: 10.1073/pnas.141863111225827230
  20. 20
    FalaceABuhlerEFaddaMet alTBC1D24 regulates neuronal migration and maturation through modulation of the ARF-6 dependent pathwayProc Natl Acad Sci USA201411123372342doi: 10.1073/pnas.131629411124469796
  21. 21
    FinelliMJSanchez-PulidoLLiuKXet alThe evolutionarily conserved Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) domain is neuroprotective against oxidative stressJ Biol Chem201629127512763doi: 10.1074/jbc.M115.68522226668325
  22. 22
    DoummarDMignotCApartisEet alA novel homozygous TBC1D24 mutation causing multifocal myoclonus with cerebellar involvementMov Disord20153014311432doi: 10.1002/mds.2630326207815
DOI: https://doi.org/10.5334/tohm.357 | Journal eISSN: 2160-8288
Language: English
Submitted on: Jan 25, 2017
Accepted on: Mar 16, 2017
Published on: Apr 13, 2017
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:

© 2017 Adeline Ngoh, Jose Bras, Rita Guerreiro, Amy McTague, Joanne Ng, Esther Meyer, W. Kling Chong, Stewart Boyd, Linda MacLellan, Martin Kirkpatrick, Manju A. Kurian, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.