Case report: a novel loss-of-function pathogenic variant in the kcna1 cytoplasmic n-terminus causing carbamazepine-responsive type 1 episodic ataxia

HIGHLIGHTS

  • who: Geoffrey W. Abbott from the Catholic University the Sacred Heart, Italy have published the research work: Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia, in the Journal: (JOURNAL)
  • future: Future studies on L155P outside the scope of this case study will include an examination of its behavior in heteromeric complexes with KCNA2 and KCNA4 with which KCNA1 is thought to co-assemble in_vivo in addition to forming homomeric KCNA1 channels as it is possible this may give some clues to . . .

     

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