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HEMIMEGALENCEPHALY

GENETICS

PATTERN OF INHERITANCE

De novo acquired somatic gene abnormality.

KNOWN GENES

Hemimegalencephaly has been linked with acquired somatic gene abnormalities in genes involved in the PI3K/AKT/mTOR pathway, including PIK3CA, AKT3, TSC1, TSC2. These gene abnormalities have been found directly in a small percentage of brain cells from the abnormal hemisphere.

FAMILY HISTORY

May be present (see above).

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