BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

350 related articles for article (PubMed ID: 15852375)

  • 1. Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy.
    Khosravani H; Bladen C; Parker DB; Snutch TP; McRory JE; Zamponi GW
    Ann Neurol; 2005 May; 57(5):745-9. PubMed ID: 15852375
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
    Heron SE; Khosravani H; Varela D; Bladen C; Williams TC; Newman MR; Scheffer IE; Berkovic SF; Mulley JC; Zamponi GW
    Ann Neurol; 2007 Dec; 62(6):560-8. PubMed ID: 17696120
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.
    Zhong X; Liu JR; Kyle JW; Hanck DA; Agnew WS
    Hum Mol Genet; 2006 May; 15(9):1497-512. PubMed ID: 16565161
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy.
    Peloquin JB; Khosravani H; Barr W; Bladen C; Evans R; Mezeyova J; Parker D; Snutch TP; McRory JE; Zamponi GW
    Epilepsia; 2006 Mar; 47(3):655-8. PubMed ID: 16529636
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Association between genetic variation of CACNA1H and childhood absence epilepsy.
    Chen Y; Lu J; Pan H; Zhang Y; Wu H; Xu K; Liu X; Jiang Y; Bao X; Yao Z; Ding K; Lo WH; Qiang B; Chan P; Shen Y; Wu X
    Ann Neurol; 2003 Aug; 54(2):239-43. PubMed ID: 12891677
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetics of idiopathic generalized epilepsies.
    Gardiner M
    Epilepsia; 2005; 46 Suppl 9():15-20. PubMed ID: 16302872
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
    Kapoor A; Satishchandra P; Ratnapriya R; Reddy R; Kadandale J; Shankar SK; Anand A
    Ann Neurol; 2008 Aug; 64(2):158-67. PubMed ID: 18756473
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [The effect of CACNA1H gene G773D mutation on calcium channel function].
    Wang JL; Han CY; Jing YH; Chen YC; Feng N; Lu JJ; Zhang YH; Pan H; Wu HS; Xu KM; Jiang YW; Liang JM; Wang L; Wang XL; Shen Y; Wu XR
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):369-73. PubMed ID: 16883519
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
    Saint-Martin C; Gauvain G; Teodorescu G; Gourfinkel-An I; Fedirko E; Weber YG; Maljevic S; Ernst JP; Garcia-Olivares J; Fahlke C; Nabbout R; LeGuern E; Lerche H; Poncer JC; Depienne C
    Hum Mutat; 2009 Mar; 30(3):397-405. PubMed ID: 19191339
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing.
    Rzhepetskyy Y; Lazniewska J; Blesneac I; Pamphlett R; Weiss N
    Channels (Austin); 2016 Nov; 10(6):466-77. PubMed ID: 27331657
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
    Haug K; Warnstedt M; Alekov AK; Sander T; Ramírez A; Poser B; Maljevic S; Hebeisen S; Kubisch C; Rebstock J; Horvath S; Hallmann K; Dullinger JS; Rau B; Haverkamp F; Beyenburg S; Schulz H; Janz D; Giese B; Müller-Newen G; Propping P; Elger CE; Fahlke C; Lerche H; Heils A
    Nat Genet; 2003 Apr; 33(4):527-32. PubMed ID: 12612585
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy.
    Khosravani H; Altier C; Simms B; Hamming KS; Snutch TP; Mezeyova J; McRory JE; Zamponi GW
    J Biol Chem; 2004 Mar; 279(11):9681-4. PubMed ID: 14729682
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic variation of CACNA1H in idiopathic generalized epilepsy.
    Heron SE; Phillips HA; Mulley JC; Mazarib A; Neufeld MY; Berkovic SF; Scheffer IE
    Ann Neurol; 2004 Apr; 55(4):595-6. PubMed ID: 15048902
    [No Abstract]   [Full Text] [Related]  

  • 14. Susceptibility genes for complex epilepsy.
    Mulley JC; Scheffer IE; Harkin LA; Berkovic SF; Dibbens LM
    Hum Mol Genet; 2005 Oct; 14 Spec No. 2():R243-9. PubMed ID: 16244322
    [TBL] [Abstract][Full Text] [Related]  

  • 15. G protein-mediated inhibition of Cav3.2 T-type channels revisited.
    Perez-Reyes E
    Mol Pharmacol; 2010 Feb; 77(2):136-8. PubMed ID: 19903827
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy.
    Souza IA; Gandini MA; Zhang FX; Mitchell WG; Matsumoto J; Lerner J; Pierson TM; Zamponi GW
    Mol Brain; 2019 Oct; 12(1):86. PubMed ID: 31651342
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional evaluation of human ClC-2 chloride channel mutations associated with idiopathic generalized epilepsies.
    Niemeyer MI; Yusef YR; Cornejo I; Flores CA; Sepúlveda FV; Cid LP
    Physiol Genomics; 2004 Sep; 19(1):74-83. PubMed ID: 15252188
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular characterization of T-type calcium channels.
    Perez-Reyes E
    Cell Calcium; 2006 Aug; 40(2):89-96. PubMed ID: 16759699
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
    Hahn A; Neubauer BA
    Brain Dev; 2009 Aug; 31(7):515-20. PubMed ID: 19464834
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
    Stogmann E; Lichtner P; Baumgartner C; Bonelli S; Assem-Hilger E; Leutmezer F; Schmied M; Hotzy C; Strom TM; Meitinger T; Zimprich F; Zimprich A
    Neurology; 2006 Dec; 67(11):2029-31. PubMed ID: 17159113
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.