Dominant gain-of-function mutations of the KCNMA1 gene, encoding the pore-forming subunit
of the large conductance voltage- and Ca 2+ -activated K+ channel, have been described …

Neuronal ceroid lipofuscinoses (NCLs) are the most common group of neurodegenerative
diseases that presents in childhood and are characterized by seizures and progressive …

An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological
phenotype and brain malformation has rarely been reported. This clinical report describes 3 …

Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disease characterized
by loss of motor neurons, which is linked to mutation of the survival motor neuron-1 gene. …

Background: The use of volatile anesthetics for maintenance of general anesthesia is common
practice. However, the use of these anesthetics is associated with adverse side effects, …

Epilepsy, one of the most prevalent chronic neurological diseases, can cause severe morbidity
as well as mortality. A mutation of the KCNMA1 gene results in a rare genetic disease …