BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (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
    [TBL] [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
    [TBL] [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; 74(24):2000-3. PubMed ID: 20548044
    [TBL] [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; 54(7):1298-306. PubMed ID: 23663087
    [TBL] [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; 36(5-6):345-9. PubMed ID: 17336780
    [TBL] [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; 168(7):595-9. PubMed ID: 26130016
    [TBL] [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; 141(8):2280-2288. PubMed ID: 29939203
    [TBL] [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; 30(4):236-43. PubMed ID: 15087100
    [TBL] [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; 165(10):812-20. PubMed ID: 19616813
    [TBL] [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; 20(6):665-73. PubMed ID: 15747356
    [TBL] [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; 52(7):1245-50. PubMed ID: 21426326
    [TBL] [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; 69(4):474-81. PubMed ID: 22491192
    [TBL] [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; 27(6):424-30. PubMed ID: 16122630
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Intronic (TTTGA)
    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; 34(10):1571-1576. PubMed ID: 31483537
    [TBL] [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; 31(11):1704-1710. PubMed ID: 27613677
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Case Report: A Case of Epileptic Disorder Associated With a Novel
    Chen W; Chen F; Shen Y; Yang Z; Qin J
    Front Genet; 2021; 12():743833. PubMed ID: 34691156
    [No 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; 91(12):1399-406. PubMed ID: 23955123
    [TBL] [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; 354(13):1370-7. PubMed ID: 16571880
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.