Epilepsy in Coffin-Siris Syndrome: A case report of Indian patient with ARID1B-gene mutation

Key Points

• Epilepsy manifests as a primary issue in this case report, highlighting its relevance in Coffin-Siris syndrome.
• The patient displays distinct phenotypic features linked to the ARID1B gene mutation, guiding diagnosis.
• Analysis emphasizes the need for genetic testing in cases of epilepsy with atypical presentations.
• Further understanding of this condition may enhance awareness of its clinical implications and management strategies.