Potassium calcium-activated Channel subfamily M Alpha1 (KCNMA1) Channelopathy: First case report from India

The potassium calcium-activated channel subfamily M alpha 1 (KCNMA1)-linked channelopathy is a genetic neurological disorder caused by variants in the KCNMA1 gene, which encodes the BK calcium-activated potassium channel.It is characterized by a combination of ataxia, myoclonus, other movement disorders, seizures, developmental delay, and intellectual disability.Patients often have paroxysmal events triggered by fever and other stressors.Here, we report the first case from India of KCNMA1-linked channelopathy presenting with mixed movement disorders and pyramidal involvement without seizures, paroxysmal events, or intellectual disability with a novel homozygous likely pathogenic splicesite variant (c.2015+2T>C).