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febrile seizures


Febrile seizures, which occur in young children, have long been known to have a major inherited component.

Mutations in some genes that encode sodium channel and GABA(A) receptor subunits have been found in a few families affected by febrile seizures. These mutations account only for a minority of cases, and much remains to be learnt about the molecular architecture of febrile seizures.

A rare inherited cause, a mutation in the GABA(A) receptor subunit GABRG2 gene, has been recently shown to cause a temperature-dependent intracellular trafficking defect.

References

- Berkovic SF, Petrou S. Febrile seizures: traffic slows in the heat. Trends Mol Med. 2006 Aug;12(8):343-4. PMID: #16829199#


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