Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia

Abstract excerpt

Despite a growing number of ion channel genes implicated in hereditary ataxia, it remains unclear how ion channel mutations lead to loss-of-function or death of cerebellar neurons. Mutations in the gene KCNMA1 , encoding the α-subunit of the BK channel have emerged as responsible for a variety of neurological phenotypes. We describe a mutation (BK G354S ) in KCNMA1 , in a child with congenital and progressive...

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