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 …

Purpose To report novel clinical manifestations of KCNA2 mutation related epileptic
encephalopathy. Methods Blood samples were sent for whole exome and Sanger …

The gene kcnma1 encodes the α-subunit of high-conductance calcium-and voltage-
dependent K+ (BK) potassium channel. With the development of generation gene …

Background: The KCNMA1 gene encodes the BK channels pore forming α subunit. BK
channels (Big Kalium) are potassium channels characterized by their large conductance of …

We describe the novel phenotypic features of an adult male patient carrying a p. Arg297Gln
(c. 890G> A) mutation of the KCNA2 gene encoding the voltage-gated potassium channel …

Background: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage,
and calcium-sensitive potassium channel (BK channels) that plays a critical role in neuronal …

Background The KCNT1 gene encodes a Na+-activated K+ channel. Gain-of-function
mutations of KCNT1 lead to autosomal dominant sleep-related hypermotor epilepsy, early …

Genetic variants in KCNA2 (potassium voltage-gated channel subfamily A member 2) have
been associated with a spectrum of symptoms such as epileptic encephalopathy, myoclonic …

Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-
function or a gain-of-function of the voltage-gated K+ channel Kv1. 2, were described to …

We report on the rare case of a male toddler presenting with myoclonic epilepsy
characterized by daily episodes of upward movements of the eyebrows, and myoclonic jerks …