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JUVENILE ABSENCE EPILEPSY (JAE)

GENETICS

PATTERN OF INHERITANCE

Complex/polygenic inheritance.

KNOWN GENES

As the genetic etiology is complex/polygenic, pathogenic single gene disorders are not expected and genetic testing is not part of routine clinical evaluation. If seizures are drug-resistant or the individual has intellectual impairment, a chromosomal microarray is recommended to look for recurrent copy number variations (e.g., 15q11.2, 15q13.3, and 16p13.11 microdeletion).

FAMILY HISTORY OF SEIZURES/EPILEPSY

A first-degree family history of epilepsy may be present, in keeping with complex inheritance. Family members typically have a genetic generalised or idiopathic generalized epilepsy.

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