episodic ataxia

Literature (4)

Literature for DOID 963: episodic ataxia

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

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Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.
S4-S5 linker movement during activation and inactivation in voltage-gated K+ channels., Kalstrup T,Blunck R, Proc Natl Acad Sci U S A. July 17, 2018; 115(29):1091-6490.
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.
Selective block of human Kv1.1 channels and an epilepsy-associated gain-of-function mutation by AETX-K peptide., Zhao R,Qasim A,Sophanpanichkul P,Dai H,Nayak M,Sher I,Chill J,Goldstein SAN, FASEB J. January 1, 2024; 38(1):1530-6860.

Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.

S4-S5 linker movement during activation and inactivation in voltage-gated K+ channels., Kalstrup T,Blunck R, Proc Natl Acad Sci U S A. July 17, 2018; 115(29):1091-6490.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.

Selective block of human Kv1.1 channels and an epilepsy-associated gain-of-function mutation by AETX-K peptide., Zhao R,Qasim A,Sophanpanichkul P,Dai H,Nayak M,Sher I,Chill J,Goldstein SAN, FASEB J. January 1, 2024; 38(1):1530-6860.