KCNA1 encodes Kv1.1, a voltage-gated potassium channel that mediates transmembrane potassium transport primarily in the brain and central nervous system 1. The channel regulates membrane potential and prevents neuronal hyperexcitability by forming tetrameric potassium-selective channels that open in response to membrane depolarization 23. KCNA1 can form homotetrameric delayed-rectifier channels or heterotetrameric channels with other KCNA family members, with properties modulated by cytoplasmic beta subunits 4. The channel is essential for regulating neuronal excitability in the hippocampus, neuromuscular responses, auditory processing, and magnesium ion homeostasis in the kidney 526. KCNA1 mutations cause channelopathies with diverse clinical manifestations. Episodic ataxia type 1 (EA1), the primary KCNA1-associated disorder, results from heterozygous mutations causing recurrent episodes of incoordination triggered by physical exertion or stress 78. Loss-of-function mutations predominantly cause EA1, while mutations clustering in the pore region correlate with epilepsy presentations 910. Emerging phenotypes include paroxysmal kinesigenic dyskinesia and hypomagnesemia, complicated by genetic modifiers influencing disease severity 1110. Understanding KCNA1 genotype-phenotype correlations enables personalized diagnosis and therapeutic strategies for affected patients.