Work

Mixed Movement Disorder in a Patient With a Novel Biallelic KCNMA1 Splice-Site Variant: Expanding the Genotype–Phenotype Correlation

Year: 2026

Type: article

Abstract: 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).

Source: Journal of Movement Disorders

DOI: 10.14802/jmd.25336

Authors: Madathum Kuzhiyil Farsana, Vikram V. Holla, Mit Ankur Raval, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal

Institution: National Institute of Mental Health and Neurosciences

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7130940976