cerebellar hyplasia/atrophy, epilepsy, and global developmental delay

Literature (2)

Literature for DOID 0070339: cerebellar hyplasia/atrophy, epilepsy, and global developmental delay

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

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A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome., Proks P,Girard C,Haider S,Gloyn AL,Hattersley AT,Sansom MS,Ashcroft FM, EMBO Rep. May 1, 2005; 6(5):1469-3178.
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating., Zhang Y,Zhang Y,Tachtsidis G,Schob C,Koko M,Hedrich UBS,Lerche H,Lemke JR,van Haeringen A,Ruivenkamp C,Prescott T,Tveten K,Gerstner T,Pruniski B,DiTroia S,VanNoy GE,Rehm HL,McLaughlin H,Bolz HJ,Zechner U,Bryant E,McDonough T,Kindler S,Bähring R, Hum Mol Genet. November 16, 2021; 30(23):1460-2083.

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome., Proks P,Girard C,Haider S,Gloyn AL,Hattersley AT,Sansom MS,Ashcroft FM, EMBO Rep. May 1, 2005; 6(5):1469-3178.

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating., Zhang Y,Zhang Y,Tachtsidis G,Schob C,Koko M,Hedrich UBS,Lerche H,Lemke JR,van Haeringen A,Ruivenkamp C,Prescott T,Tveten K,Gerstner T,Pruniski B,DiTroia S,VanNoy GE,Rehm HL,McLaughlin H,Bolz HJ,Zechner U,Bryant E,McDonough T,Kindler S,Bähring R, Hum Mol Genet. November 16, 2021; 30(23):1460-2083.