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Updated: Dec 10, 2025

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
Cardiac phenotypic spectrum of KCNT1 mutations
Utkarsh Kohli1, Chitra Ravishankar2, Douglas Nordli3
1Division of Pediatric Cardiology, Department of Pediatrics, Comer Children's Hospital and Pritzker School of Medicine of the University of Chicago, Chicago, IL, USA.
Abstract:
We report a 10-month-old girl with KCNT1 (c1420C > T; p. Arg474Cys, R474C) mutation-associated epileptic encephalopathy, systemic-to-pulmonary artery "collateralopathy", and intermittent QTc prolongation. Spontaneous regression of systemic-to-pulmonary artery collateral-mediated left heart dilation was noted in this patient, a finding which was ominous as it heralded the onset of severe pulmonary hypertension. The structural and electrical phenotypic features of KCNT1 mutation-associated heart disease, including the novel findings noted in our patient, are discussed in detail.
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