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Updated: Jul 8, 2025

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Published on: March 12, 2013
Familial KCNQ2 mutation: a psychiatric perspective.
Anton Iftimovici1,2, Angeline Charmet3, Béatrice Desnous4
1Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, "Physiopathology of psychiatric disorders" team.
This study details a KCNQ2 gene mutation causing early-onset epilepsy, intellectual disability, and autism. Genetic counseling and psychiatric evaluation are crucial for managing complex KCNQ2-encephalopathy cases.
Area of Science:
- Genetics
- Neurology
- Developmental Pediatrics
Background:
- KCNQ2 mutations are a frequent cause of early-onset epileptic syndromes.
- These mutations present with varied developmental outcomes, including cognitive and social impairments.
- Characterizing these heterogeneous profiles is essential for effective patient management.
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