Epilepsy

Epilepsy is a common chronic neurological disorder characterized by recurrent seizures. Epilepsy should not be understood as a single disorder, but rather as a group of syndromes with vastly divergent symptoms but all involving episodic abnormal electrical activity in the brain.Wikipedia

The most common type of human epilepsy is rolandic epilepsy, affecting primarily children between the ages of 3 to 12. Apart from their seizure disorder, affected individuals are otherwise normal, and the seizures usually abate spontaneously in adolescence.

SNPs that may be associated with rolandic epilepsy include:

• 3 ELP4 SNPs: rs964112, rs11031434, and rs986527

Mutations in the SCN1A gene are associated with Dravet syndrome, a rare form of epilepsy that occurs in infants.

SNPs may also be associated with efficacy of seizure treatment:

[PMID 19077679] A model using 5 SNPs better predicted epilepsy seizure treatment outcome than any single SNP did in a study of 115 patients.

And SNPs may influence side effects from drugs used to treat epilepsy:

• rs2273697, influencing side effects from carbamazepine