A seizure is a sudden and limited brain process that consists in a synchronized and excessive activity of a group of neurons. This discharge may be focal or spread to other regions through a propagation process.
When a seizure is focused, the patient is usually conscious. When a seizure is generalized, there tends to be an environmental disconnection and the patient loses all memory of the episode.
Seizures may be associated with convulsive movements, muscle stiffness loss of muscle tone, tremor, myoclonus, or generalized jerks. In other cases, seizures may consist simply in a cessation of activity without causing convulsive movements.
We talk about epilepsy when the brain, for one reason or another, has a predisposition to have recurrent seizures.
The diagnosis of a seizure is made by clinical history (the patient’s symptoms are critical, personal and family history) and relies on the electroencephalogram or EEG.
The EEG is a recording of the electrical activity of neurons. There are external factors that affect the incidence of EEG abnormalities, and are applied systematically over the registers to optimize the performance of the test.
These favorable factors are: perform a sleep registration, with hyperventilation maneuvers (breath deeper and more frequently), with intermittent light stimulation, visual or auditory stimuli, etc…
Performing a EEG register in these conditions improves its diagnosis possibilities.
There are many different types of seizures, as there are different types of EEG findings according to the type of crisis that the patient presents, the underlying disease, the use of antiepileptic medication… In the case of Lowe syndrome there are no specific EEG findings and they change with the evolution of disease, as epileptic seaizures do.
Patients with epilepsy in our RareCommons community of Lowe need the administration of more than one antiepileptic drug in more than one half of them. Those that are more often given at first instance are valproate and carbamazepine.