Generalized epilepsy

Both focal and generalized epilepsies are heterogeneous with respect to their etiology and the principles of therapy. 

Juvenile myoclonic epilepsy (JME) A primary generalized epilepsy syndrome that usually starts in the early to middle teenage years and has a strong familial component. Patients have myoclonic jerks and tonic-clonic seizures and may also have absence seizures. 

Mutations in O generalized epilepsy with febrile seizures plus syndrome... 

Apart from this epileptic seizure classification, an additional classification specifies epileptic syndromes, which refer to a cluster of symptoms frequently occurring together and include seizure type, etiology, age of onset and other factors [2]. The epileptic syndromes have been categorized into partial versus generalized epilepsies. The partial... 

Generalized epilepsy with febrile seizures plus (GEFS+), severe myoclonic epilepsy of infancy (SMEI)... 

Simister, R. J., McLean, M. A., Barker, G. J. and Duncan J. S. Proton MRS reveals frontal lobe metabolite abnormalities in idiopathic generalized epilepsy. Neurology 61 897-902, 2003. 

It is a first-line AED for patients with partial seizures. It is also approved for tonic-clonic seizures in primary generalized epilepsy. 

R1820X Generalized epilepsy and episodic and progressive ataxia nt.4778-4780 ctt deletion, deletion of A1593 and Y1594- EA2... 

Figure 5. Mutations in the human Cav3.2 (T-type) voltage-gated calcium channel associated with Childhood Absence Epilepsy (CAE), Idiopathic Generalized Epilepsy (IGE) and Autism Spectrum Disorder (ASD)...

Table 7. CACNA1H (Cav3.2, ct1H) Functional results for mutations associated with CAE = childhood absence epilepsy, IGE = Idiopathic generalized epilepsy and ASD = Autism Spectrum Disorder (only those mutations with functional data are listed)...

Table 8. CACNB4 ( i, ) Functional results for mutations associated with JME= juvenile myoclonic epilepsy, GE = generalized epilepsy and EA = episodic ataxia...

Khosravani H, Bladen C, Parker DB, Snutch TP, McRory JE, Zamponi GW (2005) Effects of Cav3.2 channel mutations linked to idiopathic generalized epilepsy. Ann Neurol 57 745—749. 

Sander T (1996) The genetics of idiopathic generalized epilepsy implications for the understanding of its aetiology. Mol Med Today 2 173-180. 

Khosravani H, Zamponi GW (2006) Voltage-gated calcium channels and idiopathic generalized epilepsies. Physiol Rev 86 941-66... 

Valproate is now the most commonly used antiepileptic drug worldwide. It is the drug of choice in primary generalized epilepsy, particularly in the treatment of generalized absence, myoclonus and tonic-clonic seizures. Valproate is the drug of first choice in atypical absence and atonic seizures, for Lennox-Gastaut syndrome and myoclonic epilepsy. 

Vigabactin is indicated for second-line use in patients with refractory partial epilepsy but, unlike lamotrigine and topiramate, it does not appear to be useful in generalized epilepsies. It is the drug of choice for infantile spasms. 

In an open study 25 patients with new-onset focal and primary generalized epilepsy were treated with clobazam at a single centre (2). After a mean follow-up of 16 months (range 7-24), 16 patients were seizure free, while five had more than a 50% reduction in seizure frequency. Sedation was the most common adverse event, reported by four patients however it was always mild and did not require withdrawal of clobazam. Other adverse effects, reported in one patient each, were weight gain, ataxia, loss of shortterm memory, and breakthrough seizures. 

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