A novel variant in the KCNA1 gene has been identified in a patient exhibiting tremor and autism spectrum disorder, leading to mixed loss-of-function and gain-of-function defects in Kv1.1 channels. This discovery may provide insights into the underlying mechanisms of these conditions.
novel kcna1 variant in a patient with tremor and autism spectrum disorder causes mixed lof gof defects of kv1 1 channels
Original title: “A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.”