SNP Shot: Genomic Insights

Juvenile myoclonic epilepsy (JME) is a type of epilepsy involving recurring seizures. Typically starting between the ages of 12 and 18, during childhood or adolescence, JME usually persists into adulthood. The hallmark of JME is myoclonic seizures, which manifest as sudden, involuntary muscle jerks. Individuals with JME may also experience generalized tonic-clonic seizures (grand mal seizures), characterized by muscle stiffening, convulsions, and loss of awareness. Some individuals may also have absence seizures, resulting in brief periods of unconsciousness that appear as staring spells. Generally, myoclonic seizures, the defining characteristic of JME, develop during adolescence, followed by generalized tonic-clonic seizures a few years later. Seizures can occur at any time but are most frequent in the morning, shortly after waking up. Factors like sleep deprivation, fatigue, stress, and alcohol intake can trigger seizures.

Inheritance:

The way juvenile myoclonic epilepsy is passed down is complex and not fully understood. When caused by GABRA1 gene mutations, JME follows an autosomal dominant inheritance pattern. This means that having just one copy of the mutated gene in each cell is enough to cause the condition. The inheritance pattern for JME caused by EFHC1 gene mutations is currently unknown. While JME can be hereditary, many cases occur sporadically in individuals with no prior family history of the condition.