Gene associated with seizures, autism, and hepatomegaly in an Amish girl.
Pediatr Neurol
; 40(4): 310-3, 2009 Apr.
Article
in En
| MEDLINE
| ID: mdl-19302947
ABSTRACT
A genetic defect causing autism and epilepsy involving the contactin associated protein-like 2 gene (CNTNAP2) has been discovered in a selected cohort of Amish children. These children were found to have focal seizures and autistic regression. Surgical biopsy of the anterior temporal lobe of two such children revealed cortical dysplasia and a single nucleotide polymorphism mutation of this gene. The present case is that of a related but geographically distant proband with a similar phenotype but a single-base-pair deletion in the CNTNAP2 gene. This patient exhibited the additional features of periventricular leukomalacia and hepatomegaly.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Autistic Disorder
/
Epilepsy, Complex Partial
/
Hepatomegaly
/
Membrane Proteins
/
Nerve Tissue Proteins
Type of study:
Risk_factors_studies
Limits:
Adolescent
/
Female
/
Humans
Language:
En
Journal:
Pediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2009
Document type:
Article
Affiliation country:
United States