Trends in Epilepsy Research
Early infantile epileptic encephalopathies (EIEEs) are a heterogenous group of seizure disorders that begin in infancy. Some of them are present at birth whereas others arise later in infancy. In the recent years, advances in gene sequencing techniques have identified numerous genetic mutations that are thought to be responsible for many of the EIEEs.
Normal neuronal activity depends on the fine equilibrium between the actions of excitatory neurotransmitters (eg: glutamate) and inhibitory neurotransmitters (eg: gamma-aminobutyric acid, GABA). Usually, GABA, the major inhibitory neurotransmitter, counterbalances neuronal excitation in the brain, preventing neuronal hyperexcitabilty and seizures. At the same time, in order to ensure that neuronal activity continues at the optimal level, it is critical that GABA present in the space between neurons does not accumulate or linger.
Dravet syndrome is a rare and catastrophic form of incurable epilepsy that begins in infancy. Initially, these children develop normally but by the second year of life, they exhibit a progressive decline. It starts initially as febrile seizures i.e. seizures triggered by high fever but eventually progresses to severe spontaneous seizures. Over time, these children commonly exhibit developmental delays in cognitive and sensory abilities, and autistic traits. Moreover, the incidence of SUDEP (sudden unexplained death in epilepsy) is high among these patients.