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Journal Abstract Search

228 related items for PubMed ID: 23518707

  • 1. Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
    Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A.
    Brain; 2013 Apr; 136(Pt 4):1155-60. PubMed ID: 23518707
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.
    Striano P, Zara F, Striano S, Minetti C.
    Brain; 2013 Oct; 136(Pt 10):e253. PubMed ID: 23803304
    [No Abstract] [Full Text] [Related]

  • 3. Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.
    Stogmann E, Zimprich A, Zimprich F.
    Brain; 2013 Oct; 136(Pt 10):e254. PubMed ID: 23803302
    [No Abstract] [Full Text] [Related]

  • 4. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.
    Van Bogaert P, Azizieh R, Désir J, Aeby A, De Meirleir L, Laes JF, Christiaens F, Abramowicz MJ.
    Ann Neurol; 2007 Jun; 61(6):579-86. PubMed ID: 17455289
    [Abstract] [Full Text] [Related]

  • 5. Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p.
    Depienne C, Magnin E, Bouteiller D, Stevanin G, Saint-Martin C, Vidailhet M, Apartis E, Hirsch E, LeGuern E, Labauge P, Rumbach L.
    Neurology; 2010 Jun 15; 74(24):2000-3. PubMed ID: 20548044
    [Abstract] [Full Text] [Related]

  • 6. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
    Licchetta L, Pippucci T, Bisulli F, Cantalupo G, Magini P, Alvisi L, Baldassari S, Martinelli P, Naldi I, Vanni N, Liguori R, Seri M, Tinuper P.
    Epilepsia; 2013 Jul 15; 54(7):1298-306. PubMed ID: 23663087
    [Abstract] [Full Text] [Related]

  • 7. Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy).
    Regragui W, Gerdelat-Mas A, Simonetta-Moreau M.
    Neurophysiol Clin; 2006 Jul 15; 36(5-6):345-9. PubMed ID: 17336780
    [Abstract] [Full Text] [Related]

  • 8. Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.
    Cen ZD, Xie F, Lou DN, Lu XJ, Ouyang ZY, Liu L, Cao J, Li D, Yin HM, Wang ZJ, Xiao JF, Luo W.
    Am J Med Genet B Neuropsychiatr Genet; 2015 Oct 15; 168(7):595-9. PubMed ID: 26130016
    [Abstract] [Full Text] [Related]

  • 9. Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.
    Cen Z, Jiang Z, Chen Y, Zheng X, Xie F, Yang X, Lu X, Ouyang Z, Wu H, Chen S, Yin H, Qiu X, Wang S, Ding M, Tang Y, Yu F, Li C, Wang T, Ishiura H, Tsuji S, Jiao C, Liu C, Xiao J, Luo W.
    Brain; 2018 Aug 01; 141(8):2280-2288. PubMed ID: 29939203
    [Abstract] [Full Text] [Related]

  • 10. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
    Ceulemans BP, Claes LR, Lagae LG.
    Pediatr Neurol; 2004 Apr 01; 30(4):236-43. PubMed ID: 15087100
    [Abstract] [Full Text] [Related]

  • 11. Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family.
    Magnin E, Vidailhet M, Depienne C, Saint-Martin C, Bouteiller D, LeGuern E, Apartis E, Rumbach L, Labauge P.
    Rev Neurol (Paris); 2009 Oct 01; 165(10):812-20. PubMed ID: 19616813
    [Abstract] [Full Text] [Related]

  • 12. Familial cortical myoclonic tremor with epilepsy: a single syndromic classification for a group of pedigrees bearing common features.
    van Rootselaar AF, van Schaik IN, van den Maagdenberg AM, Koelman JH, Callenbach PM, Tijssen MA.
    Mov Disord; 2005 Jun 01; 20(6):665-73. PubMed ID: 15747356
    [Abstract] [Full Text] [Related]

  • 13. Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.
    Coppola A, Santulli L, Del Gaudio L, Minetti C, Striano S, Zara F, Striano P.
    Epilepsia; 2011 Jul 01; 52(7):1245-50. PubMed ID: 21426326
    [Abstract] [Full Text] [Related]

  • 14. Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.
    Crompton DE, Sadleir LG, Bromhead CJ, Bahlo M, Bellows ST, Arsov T, Harty R, Lawrence KM, Dunne JW, Berkovic SF, Scheffer IE.
    Arch Neurol; 2012 Apr 01; 69(4):474-81. PubMed ID: 22491192
    [Abstract] [Full Text] [Related]

  • 15. A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.
    Kimura K, Sugawara T, Mazaki-Miyazaki E, Hoshino K, Nomura Y, Tateno A, Hachimori K, Yamakawa K, Segawa M.
    Brain Dev; 2005 Sep 01; 27(6):424-30. PubMed ID: 16122630
    [Abstract] [Full Text] [Related]

  • 16. Intronic (TTTGA)n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.
    Cen Z, Chen Y, Yang D, Zhu Q, Chen S, Chen X, Wang B, Xie F, Ouyang Z, Jiang Z, Fu A, Hu B, Yin H, Qiu X, Yu F, Du X, Hao W, Liu Y, Wang H, Wang L, Yu X, Xiao Y, Liu C, Xiao J, Zhou Y, Yang W, Zhang B, Luo W.
    Mov Disord; 2019 Oct 01; 34(10):1571-1576. PubMed ID: 31483537
    [Abstract] [Full Text] [Related]

  • 17. Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy.
    Cen Z, Huang C, Yin H, Ding X, Xie F, Lu X, Ouyang Z, Lou Y, Qiu X, Wang Z, Xiao J, Ding M, Luo W.
    Mov Disord; 2016 Nov 01; 31(11):1704-1710. PubMed ID: 27613677
    [Abstract] [Full Text] [Related]

  • 18. Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy.
    Chen W, Chen F, Shen Y, Yang Z, Qin J.
    Front Genet; 2021 Nov 01; 12():743833. PubMed ID: 34691156
    [Abstract] [Full Text] [Related]

  • 19. The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
    Martí-Massó JF, Bergareche A, Makarov V, Ruiz-Martinez J, Gorostidi A, López de Munain A, Poza JJ, Striano P, Buxbaum JD, Paisán-Ruiz C.
    J Mol Med (Berl); 2013 Dec 01; 91(12):1399-406. PubMed ID: 23955123
    [Abstract] [Full Text] [Related]

  • 20. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
    Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH.
    N Engl J Med; 2006 Mar 30; 354(13):1370-7. PubMed ID: 16571880
    [Abstract] [Full Text] [Related]

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