Generalized Epilepsy with Predominantly Tonic-Clonic Seizures
Grand Mal Seizures on Awakening – Generalized Epilepsy with phantom Absences – Symptoms – Diagnosis – Treatment – Absence Status Epilepticus – Triggers
Epilepsy with Grand Mal Seizures on Awakening
This is, most likely, a genetic epilepsy syndrome with Generalized Tonic-Clonic Seizures as the main symptom. It is also known as Generalized Tonic-Clonic Seizures Only. The exact prevalence of this syndrome is not known. About 3% have first degree relatives with epilepsy. The age of seizure onset is between 6 and 35 years with a peak in the second decade of life. There is a slight male predominance.
All patients have generalized tonic-clonic seizures with absence and myoclonic seizures occurring much less frequently. Seizures typically occur 1 to 2 hours after awakening and during relaxation in the evening. Random, while awake or while asleep, seizures are not exceptional either. Overall, patients may be separated into three almost equal groups with timing of seizures in morning hours, any time while asleep, or any time while awake. The smallest portion of patients with Generalized Tonic-Clonic Seizures Only (about 15%) has seizures occurring randomly.
Seizures are precipitated by alcohol, sleep deprivation, and fatigue.
EEG in half of the patients demonstrates generalized spike/polyspike and wave discharges on the top of normal background. These abnormalities are more likely to be seen in the patients who have absences and myoclonus. Phantom absences may be revealed on Video EEG recording.
Epilepsy with Grand Mal Seizures on Awakening is a lifelong condition with tendency of easing up later in life with gradual loss of response to precipitating factors.
Epilepsy with Grand Mal Seizures on Awakening responds well to antiepileptic medications. The drugs of choice are Valproate, Lamotrigine, Levetitacetam, Phenobarbital, and Topiramate.
Considering some patients have myoclonus and absences, Carbamazepine, Oxcarbazepine, and Phenytoin are not recommended in this form of epilepsy.
Discontinuation of treatment leads to seizure recurrence in the majority of patients.
Avoidance of alcohol and sufficient sleep improve seizure control.
Idiopathic Generalized Epilepsy with Phantom Absences
This is likely a genetic epilepsy syndrome. Males and females are affected equally. First generalized tonic-clonic seizures appear in adults between 20 to 40 years old. The time of phantom absences onset is not clear because they are too inconspicuous to be noticed by either the observers or by the patients. There are no known associated neurological and cognitive abnormalities.
The first detectable sign of idiopathic generalized epilepsy with phantom absences is a GTCS in the third to fourth decade of life. Generalized tonic-clonic seizures are usually infrequent. There are no specific precipitating factors. No specific seizure timing.
Phantom seizures are not clinically evident. They are detectable on video-EEG monitoring and sometimes present with eye blinking. If a patient is instructed to count breaths, phantom absences may become noticeable due skipped counting.
Absences are provoked by hyperventilation. Absence status epilepticus (non-remitting absences for hours) may precede a GTCS or happen independently in about half of the patients.
Brain imaging is non-revealing in idiopathic generalized epilepsy with phantom absences. EEG during seizure free periods often demonstrates focal or generalized sharp, slow waves, or spike-and-waves. EEG during a seizure is characterized by generalized a few seconds runs of 3 Hz to 4 Hz spike-and-waves or polyspike-and-waves.
The major challenge in the diagnosis of this condition is misinterpretation of absence status epilepticus as a partial seizure. Phantom absences often evade detection unless they are sought for.
Frequent phantom absences do not appear to be affecting quality of life. The pattern of GTCS is not predictable. This is a lifelong condition; often with periodic, transient remissions that might last for years.
Idiopathic Generalized Epilepsy with phantom Absences usually responds well to medications. The anti-epileptic drugs are similar to the ones used in the described above epilepsy with generalized tonic-clonic seizures only.
The drugs of choice are Lamotrigine and Valproate.
Considering the fact that patients are aware of absence status epilepticus, benzodiazepines may be prescribed on as needed basis to abort the attack.
Absence aggravating medications, such as Vigabatrin, Gabapentin, Carbamazepine, and Tiagabine are contraindicated.
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