Familial KCNQ2 mutation: a psychiatric perspective.
Psychiatr Genet
; 34(1): 24-27, 2024 Feb 01.
Article
in En
| MEDLINE
| ID: mdl-38108335
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Seizures
/
KCNQ2 Potassium Channel
Limits:
Child, preschool
/
Humans
/
Male
Language:
En
Journal:
Psychiatr Genet
Journal subject:
GENETICA
/
PSIQUIATRIA
Year:
2024
Document type:
Article
Country of publication:
United kingdom