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Is there a genetic relationship between epilepsy and birth defects?
M Durner1, D A Greenberg, A V Delgado-Escueta
1Department of Psychiatry, Mount Sinai Medical Center, New York, NY 10029.
Neurology
|April 1, 1992
Summary
Children born to mothers with epilepsy face higher risks of congenital malformations. Genetic factors on chromosome 6 may contribute to these birth defects, independent of antiepileptic drugs.
Area of Science:
- Medical Genetics
- Teratology
- Epilepsy Research
Background:
- Children of epileptic mothers exhibit increased congenital malformation rates.
- Antiepileptic drugs are primary suspected teratogens, but epilepsy itself or genetic factors are also considered.
- Existing research does not definitively clarify the role of genetic factors in these elevated risks.
Purpose of the Study:
- To investigate the potential contribution of genetic factors to congenital malformations in offspring of epileptic mothers.
- To explore the genetic linkage of epilepsy and specific birth defects to chromosome 6.
Main Methods:
- Review of genetic studies on families with neural-tube defects, cleft lip (CL), cleft palate (CP), and epilepsy.
- Analysis of genetic markers on the short arm of chromosome 6, including HLA region and human homologue of the mouse t-complex.
Main Results:
- Evidence suggests genes on chromosome 6 short arm may be involved in CL and CP, linked to factor XIIIa.
- A gene for idiopathic generalized epilepsy, near the HLA region, appears distinct from the CL/CP gene.
- The short arm of chromosome 6 harbors a human t-complex homologue, implicated in mouse neural-crest development defects.
Conclusions:
- Genetic factors on chromosome 6 may play a role in congenital malformations in children of epileptic mothers.
- Further research is needed to establish links between the human t-complex homologue, epilepsy, and birth defects.