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A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS) Volume 22, numéro 4, August 2020

TEST YOURSELF

(1) What seizure types and EEG findings are specific to Alpers syndrome?

 

(2) What is the role of GABA-A receptors in the brain and what effect do GABA-A receptor mutations have regarding the aetiology of epileptic encephalopathies?

 

 

 

 

 

 

 

 

 

 

 

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Answers

(1) Myoclonic status epilepticus or bilateral epilepsia partialis continua (EPC) in combination with rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS) on EEG are considered to be specific to Alpers syndrome.

 

(2) GABA-A receptors are ligand-gated chloride ion channels and function as pentamers. A combination of α1, β2, γ2 subunits is the predominant form of GABA-A receptors in the mammalian central nervous system. GABA-A receptors play a cardinal role in controlling neuronal excitability in the brain and mutations in genes encoding α1, β2, β3 and γ2 subunits have been reported to be responsible for epileptic encephalopathies.

 

 

 

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