Andersen-Tawil syndrome

Literature (7)

Literature for DOID 0050434: Andersen-Tawil syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome., Lu CW,Lin JH,Rajawat YS,Jerng H,Rami TG,Sanchez X,DeFreitas G,Carabello B,DeMayo F,Kearney DL,Miller G,Li H,Pfaffinger PJ,Bowles NE,Khoury DS,Towbin JA, J Med Genet. August 1, 2006; 43(8):1468-6244.
Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome., Preisig-Müller R,Schlichthörl G,Goerge T,Heinen S,Brüggemann A,Rajan S,Derst C,Veh RW,Daut J, Proc Natl Acad Sci U S A. May 28, 2002; 99(11):1091-6490.
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)., Tristani-Firouzi M,Jensen JL,Donaldson MR,Sansone V,Meola G,Hahn A,Bendahhou S,Kwiecinski H,Fidzianska A,Plaster N,Fu YH,Ptacek LJ,Tawil R, J Clin Invest. August 1, 2002; 110(3):1558-8238.
Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.
Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1., Handklo-Jamal R,Meisel E,Yakubovich D,Vysochek L,Beinart R,Glikson M,McMullen JR,Dascal N,Nof E,Oz S, Front Pharmacol. January 1, 2020; 11:1663-9812.
Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.
KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy., Pan H,Liu D,Xu W,Li Y,Hu J,Henry O,Fuchs A,Jamra RA,Liu Z,He M,Chen Y,Wu S,Dong X,Chen Y,Wang P,Gu W,Jing H,Tang Y,Wang YJ,Mao X,Xiao N, Epilepsia. March 14, 2026; :1528-1167.

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome., Lu CW,Lin JH,Rajawat YS,Jerng H,Rami TG,Sanchez X,DeFreitas G,Carabello B,DeMayo F,Kearney DL,Miller G,Li H,Pfaffinger PJ,Bowles NE,Khoury DS,Towbin JA, J Med Genet. August 1, 2006; 43(8):1468-6244.

Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome., Preisig-Müller R,Schlichthörl G,Goerge T,Heinen S,Brüggemann A,Rajan S,Derst C,Veh RW,Daut J, Proc Natl Acad Sci U S A. May 28, 2002; 99(11):1091-6490.

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)., Tristani-Firouzi M,Jensen JL,Donaldson MR,Sansone V,Meola G,Hahn A,Bendahhou S,Kwiecinski H,Fidzianska A,Plaster N,Fu YH,Ptacek LJ,Tawil R, J Clin Invest. August 1, 2002; 110(3):1558-8238.

Modeling human craniofacial disorders in Xenopus., Dubey A,Saint-Jeannet JP, Curr Pathobiol Rep. March 1, 2017; 5(1):2167-485X.

Andersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1., Handklo-Jamal R,Meisel E,Yakubovich D,Vysochek L,Beinart R,Glikson M,McMullen JR,Dascal N,Nof E,Oz S, Front Pharmacol. January 1, 2020; 11:1663-9812.

Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M, Cell. April 15, 2021; :1097-4172.

KCNJ4 variants disrupt inward-rectifier potassium channel function and cause refractory epilepsy., Pan H,Liu D,Xu W,Li Y,Hu J,Henry O,Fuchs A,Jamra RA,Liu Z,He M,Chen Y,Wu S,Dong X,Chen Y,Wang P,Gu W,Jing H,Tang Y,Wang YJ,Mao X,Xiao N, Epilepsia. March 14, 2026; :1528-1167.