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Monday, June 18, 2018

Electroclinical features of absence seizures in childhood absence ...
src: n.neurology.org

Childhood absence epilepsy (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which occurs in otherwise normal children. The age of onset is between 4-10 years with peak age between 5-7 years. Children have absence seizures which although brief (~4-20 seconds), they occur frequently, sometimes in the hundreds per day. The absence seizures of CAE involve abrupt and severe impairment of consciousness. Mild automatisms are frequent, but major motor involvement early in the course excludes this diagnosis. The EEG demonstrates characteristic "typical 3Hz spike-wave" discharges. Prognosis is excellent in well-defined cases of CAE with most patients "growing out" of their epilepsy.


Video Childhood absence epilepsy



Signs and symptoms

  • (Video of Absence Seizure)

Maps Childhood absence epilepsy



Causes

CAE is a complex polygenic disorder. Particularly in the Han Chinese population there is association between mutations in CACNA1H and CAE. These mutations cause increased channel activity and associated increased neuronal excitability. Seizures are believed to originate in the thalamus, where there is an abundance of T-type calcium channels such as those encoded by CACNA1H.


Idiopathic generalised epilepsy of adult onset: clinical syndromes ...
src: jnnp.bmj.com


Pathophysiology

There are currently 20 mutations in CACNA1H associated with CAE. These mutations are likely not wholly causative and should instead be thought of as giving susceptibility. This is particularly true since some groups have found no connection between CAE and CACNA1H mutations. Many of the CACNA1H mutations have a measurable effect on channel kinetics, including activation time constant and voltage dependence, deactivation time constant, and inactivation time constant and voltage dependence (summarized in Table 1). Many of these mutations should lead to neuronal excitability, though others may lead to hypoexcitability. These predictions are due to mathematical modeling and may differ from what will occur in real neurons where other proteins, some of which may interact with CACNA1H, are present.

Along with mutations in CACNA1H, two mutations in the gene encoding a GABAA receptor ? subunit are also associated with a CAE like phenotype that also overlaps with generalized epilepsy with febrile seizures plus type-3. The first of these, R43Q, abolishes benzodiazepine potentiation of GABA induced currents. The second associated mutation, C588T has not been further characterized.


Introduction To Epilepsy Semiology diagnosis Treatment - ppt video ...
src: slideplayer.com


Diagnosis

Diagnosis is made upon history of absence seizures during early childhood and the observation of ~3 Hz spike-and-wave discharges on an EEG.


Onset of polyspike complexes in a mean-field model of human ...
src: rsta.royalsocietypublishing.org


Management


Resting functional connectivity between the hemispheres in ...
src: n.neurology.org


Epidemiology

Childhood absence epilepsy is a fairly common disorder with a prevalence of 1 in 1000 people. Few of these people will likely have mutations in CACNA1H or GABRG2 as the prevalence of those in the studies presented is 10% or less.


Medical Home Portal Childhood Absence Epilepsy 2461332 ...
src: slideplayer.com


See also

  • Generalized epilepsy with febrile seizures plus
  • Calcium channel
  • Spike and Wave

Epilepsy Part 1
src: what-when-how.com


References

  • Perez-Reyes E (2006). "Molecular characterization of T-type calcium channels". Cell Calcium. 40 (2): 89-96. doi:10.1016/j.ceca.2006.04.012. PMID 16759699. 

Pediatric Epilepsy Syndromes - ppt download
src: slideplayer.com


Footnotes


Pediatric Epilepsy Syndromes - ppt download
src: slideplayer.com


External links

  • Mechanisms of absence seizures (Scholarpedia)

Source of the article : Wikipedia

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