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Here
are some of our findings so far. |
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In
the close relatives (parents, brothers, sisters, and children) of people with
generalized epilepsy, the risk of epilepsy is about four times as
high as in the general population, whereas in the close relatives
of people with localization-related (partial or focal) epilepsy, the
risk is about two times as high as in the general population.
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Genetic
risk does not play a significant role in causing epilepsy in people
with serious brain injuries that occurred after birth (e.g., head
injuries, brain tumors, strokes, etc.)
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The
effect of genetic factors on the risk of epilepsy decreases as people
get older. After age 35, there is no definite effect of genetic factors
on epilepsy.
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In
most families, the pattern of risk does not fit any simple genetic
model (dominant, recessive, etc.), so it is very difficult to predict
which family members will develop epilepsy.
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Some
genetic mechanisms raise the risk of epilepsy without determining
the type of seizures in affected family members.
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An
unusual form of epilepsy, which we have named "autosomal dominant
partial epilepsy with auditory features," is sometimes caused
by a gene on chromosome 10 called LGI1. People with this form of epilepsy
frequently report changes in their hearing either before their grand
mal seizures or as a separate seizure type. These symptoms include
hearing sounds such as buzzing, ringing, or humming, distortions such
as sounds growing louder or softer, or more rarely, having seizures
precipitated by sounds. About half of the families that contain two
or more people with these symptoms have a mutation in the LGI1 gene.
In the other half of families, the cause has not yet been identified
-- so auditory symptoms sometimes occur in people who do not have
this genetic form of epilepsy. Also, some of those who inherit a mutation
in the LGI1 gene never develop epilepsy at all.
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In
about two-thirds of families containing more than one person with
epilepsy, all of the people with epilepsy have the same type of epilepsy
(either generalized epilepsy where seizures begin on both sides of
the brain at once, or partial epilepsy where seizures begin in part
of the brain). In the remaining one-third of families, some people
with epilepsy have generalized epilepsy and others have partial epilepsy.
The pattern of results suggests that some genes raise risk for only
one of these two types of epilepsy without raising risk for the other.
The families with both types of epilepsy might have both types of
genes, or alternatively, might have other genes that raise risk for
both types of epilepsy.
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