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Case Report of Myoclonus‐Ataxia Syndrome in an Indian Patient Due to SCNA1 Gene Mutation

Year: 2025

Type: article

Abstract: Myoclonus and ataxia are two movement disorders that occur frequently in several diseases.Progressive myoclonus ataxias (PMA) are the group of conditions presenting first with ataxia, with the subsequent development of myoclonus, and eventually drug-responsive epilepsy.1 As many of the PMA syndromes are of genetic origin, genetic testing is often required to confirm the diagnosis.We hereby report an interesting case of SCNA1 gene mutation manifesting as adult-onset PMA without epilepsy.

Source: Movement Disorders Clinical Practice

DOI: 10.1002/mdc3.70067

Author: Anjali Chouksey

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4408955230

FWCI:

Cites: 10

Cited by:

Related to: 10