Academic Journal
Familial KCNQ2 mutation: a psychiatric perspective
| Title: | Familial KCNQ2 mutation: a psychiatric perspective |
|---|---|
| Authors: | Iftimovici, Anton, Charmet, Angeline, Desnous, Béatrice, Ory, Ana, Delorme, Richard, Coutton, Charles, Devillard, Françoise, Milh, Mathieu, Maruani, Anna |
| Source: | Psychiatr Genet |
| Publisher Information: | Ovid Technologies (Wolters Kluwer Health), 2023. |
| Publication Year: | 2023 |
| Subject Terms: | Male, 0301 basic medicine, 03 medical and health sciences, 0302 clinical medicine, Seizures, Child, Preschool, Mutation, Humans, KCNQ2 Potassium Channel, Brief Reports, Exons |
| Description: | KCNQ2 mutations are a common cause of early-onset epileptic syndromes. They are associated with heterogeneous developmental profiles, from mild to severe cognitive and social impairments that need better characterization. We report a case of an inherited KCNQ2 mutation due to a deletion c.402delC in a heterozygous state, in the exon 3 of the KCNQ2 gene. A 5-year-old boy presented a cluster of sudden-onset generalized tonic-clonic seizures at three months of age, after an unremarkable postnatal period. Multiplex ligation-dependent probe amplification identified a familial mutation after an investigation in the family revealed that this mutation was present on the father’s side. The patient was diagnosed with autism and intellectual deficiency in a context of KCNQ2-encephalopathy. We describe his clinical features in light of current literature. This report highlights the importance of appropriate genetic counseling and psychiatric assessment in planning the medical and social follow-up of a disorder with complex socio-behavioral features. |
| Document Type: | Article Other literature type |
| Language: | English |
| ISSN: | 0955-8829 |
| DOI: | 10.1097/ypg.0000000000000360 |
| Access URL: | https://pubmed.ncbi.nlm.nih.gov/38108335 |
| Rights: | CC BY NC ND |
| Accession Number: | edsair.doi.dedup.....4eefa3d50955b355347c54cb5a406f89 |
| Database: | OpenAIRE |
| ISSN: | 09558829 |
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| DOI: | 10.1097/ypg.0000000000000360 |