Childhood absence epilepsy

AKAP protein kinase A anchoring protein CAE childhood absence epilepsy... 

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol 59 1137-1141... 

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)...

Khosravani H, Altier C, Simms B, Hamming KS, Snutch TP, Mezeyova J, McRory JE, Zamponi GW (2004) Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy. J Biol Chem 279 9681-9684. 

Peloquin JB, Khosravani H, Barr W, Bladen C, Evans R, Mezeyova J, Parker D, Snutch TP, McRory JE, Zamponi GW (2006) Functional analysis of Ca3.2 T-type calcium channel mutations linked to childhood absence epilepsy. Epilepsia 47 655-658. 

Vitko I, Chen Y, Arias JM, Shen Y, Wu XR, Perez-Reyes E (2005) Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J Neurosci 25 4844-4855. 

Glauser TA, Cnaan A, Shinnar S, Hirtz DG, Dlugos D, Masur D, Clark PO, Capparelli EV, Adamson PC Childhood Absence Epilepsy Study Group. Ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy. N Engl J Med 2010 362(9) 790-9. 

Nervous system An 11-year-old girl with typical childhood absence epilepsy was reported to have an EEG conversion from 3 Hz spike-and-wave to right centrotemporal and centroparietal spikes after starting ethosuximide. The authors suggested that this may have been a drug-induced conversion however, whetiier this is possible remains controversial [65 ]. 

Absence Epilepsies are a group of epileptic syndromes typically starting in childhood or adolescence and characterized by a sudden lack of attention and mild automatic movements for some seconds to minutes. Absence epilepsies are generalized, i.e. the whole neocortex shifts into a state of sleep-like oscillations. 

It is indicated in typical and atypical absence seizure, infantile spasms, myoclonic epilepsy, atonic seizures, minor motor seizures of childhood, refractory grandmal epilepsy or temporal lobe epilepsy and seizures not controlled by conventional antiepileptics. 

Scheibel et al. (1974) demonstrated a positive correlation between the chronicity of the seizure disorder and the severity of the hippocampal damage which led many to believe that HS was an eventual consequence of chronic seizures rather than a cause. From the 1950s onwards, workers started to associate HS with prior cerebral injury early in life. Retrospective studies frequently show that HS is associated with prolonged febrile seizures in childhood (Davies et al., 1996 Lewis, 1999) but see Tarkka et al. (2003). However HS is sometimes present even in the absence of any apparent initial precipitating injury. Despite the link between febrile seiznres and TLE, many children who have had febrile seizures do not develop HS or TLE (Tarkka et al, 2003). Clearly, there is a complex relationship between early cerebral injury, TLE and HS. The most commonly used animal models of epilepsy have similar pathology to HS, which is induced by an insult such as SE. 

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