Abstrakt
The progress of molecular genetics of severe childhood epileptic encephalopathies lead to the availability of diagnostic DNA testing and in many instances reveals the etiology of unsolved severe epilepsies. Mutations of KCNQ2 are seen both in benign familial neonatal epilepsies and severe neonatal epileptic encephalopathies like Ohtahara syndrome.3 KCNQ2 encodes for a subunit of a voltage-gated potassium channel (Kv7.2), which is mainly expressed in the neurons, and is responsible for the M-current that is critical in regulating excitability.
Chloral hydrate is a sedative drug acting via enhancing the gamma-aminobutyric acid receptor complex, used mainly for sedating children during diagnostic tests. Reports of the use of chloral hydrate in treating seizures are very sporadic.
Our observation suggests chloral hydrate could be effective in some individuals with KCNQ2-related encephalopathy. Further investigation is needed to support this hypothesis.