EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk

Juvenile myoclonic epilepsy (JME) is one of the most common epilepsy syndromes among the genetic generalized epilepsies (GGEs). Although it has been described using different names for many years, it was most recently defined in 1989 by the International League Against Epilepsy (ILAE) as an epilepsy syndrome usually seen in adolescents that is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks (predominantly in the upper limbs) without loss of consciousness during jerks.

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