A novel gene variant underlying type 1 episodic ataxia

The Abbott Bioelectricity Lab has collaborated with Dr. Rich Sidlow at Valley Children's Hospital to discover and decipher the underlying mechanism for the first reported KCNA1 potassium channel N-terminal domain gene sequence variant causing the inherited movement disorder, Episodic Ataxia Type 1 (EA1). The paper was published 8/9/22 in Frontiers in Neurology - congratulations to first author Dr. Rian Manville!