KCNQ2 channels are potassium channels that serve to control neuronal excitability. Loss of function mutations in these channels are known to cause various forms of epilepsy. Recently, KCNQ2 R201C and R201H gain of function mutations have been shown to exhibit an exaggerated startle response and other unique phenotypes uncharacteristic of epilepsy. These phenotypes resemble hyperekplexia, a condition in which glycine neurotransmission in the spinal cord and brainstem is affected. While KCNQ2 has widespread localization throughout the brain, its presence in the brainstem remains unknown. We used immunostaining to determine the localization of KCNQ2 in the vagus nerve and hypoglossal nerve of the brainstem. Our results show that KCNQ2 is prese...
KCNQ2-encoded Kv7.2 subunits play a critical role in balancing neuronal excitability. Mutations in K...
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci ...
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-...
KCNQ2 channels are potassium channels that serve to control neuronal excitability. Loss of function ...
AbstractBenign familial neonatal convulsions, an autosomal dominant epilepsy of newborns, are linked...
KCNQ2基因相关癫痫是一种谱系疾病,KCNQ2突变可导致从最重的早发癫痫脑病到最轻的家族性新生儿癫痫等多种临床表型.KCNQ2基因突变的类型及位点分布可能与临床表型相关联,此可为临床诊疗中进行预后判...
© 2017 the authors. KCNQ2 potassium channels are critical for normal brain function, as both loss-of...
Humans have over 70 potassium channel genes, but only some of these have been linked to disease. In ...
International audienceVariants in the Kv7.2 channel subunit encoded by the KCNQ2 gene cause epilepti...
The KCNQ2 gene product, Kv7.2, is a subunit of the M-channel, a low-threshold voltage-gated K+ chann...
Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a...
The KCNQ2 gene product, Kv7.2, is a subunit of the M-channel, a low-threshold voltage-gated K+ chann...
Mutations in KCNQ2 and KCNQ3 voltage-gated potassium channels lead to neonatal epilepsy as a consequ...
Mutations in either KCNQ2 or KCNQ3 underlie benign familial neonatal convulsions (BFNC), an inherite...
The KCNQ2 gene product, Kv7.2, is a subunit of the M-channel, a low-threshold voltage-gated K(+) cha...
KCNQ2-encoded Kv7.2 subunits play a critical role in balancing neuronal excitability. Mutations in K...
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci ...
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-...
KCNQ2 channels are potassium channels that serve to control neuronal excitability. Loss of function ...
AbstractBenign familial neonatal convulsions, an autosomal dominant epilepsy of newborns, are linked...
KCNQ2基因相关癫痫是一种谱系疾病,KCNQ2突变可导致从最重的早发癫痫脑病到最轻的家族性新生儿癫痫等多种临床表型.KCNQ2基因突变的类型及位点分布可能与临床表型相关联,此可为临床诊疗中进行预后判...
© 2017 the authors. KCNQ2 potassium channels are critical for normal brain function, as both loss-of...
Humans have over 70 potassium channel genes, but only some of these have been linked to disease. In ...
International audienceVariants in the Kv7.2 channel subunit encoded by the KCNQ2 gene cause epilepti...
The KCNQ2 gene product, Kv7.2, is a subunit of the M-channel, a low-threshold voltage-gated K+ chann...
Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a...
The KCNQ2 gene product, Kv7.2, is a subunit of the M-channel, a low-threshold voltage-gated K+ chann...
Mutations in KCNQ2 and KCNQ3 voltage-gated potassium channels lead to neonatal epilepsy as a consequ...
Mutations in either KCNQ2 or KCNQ3 underlie benign familial neonatal convulsions (BFNC), an inherite...
The KCNQ2 gene product, Kv7.2, is a subunit of the M-channel, a low-threshold voltage-gated K(+) cha...
KCNQ2-encoded Kv7.2 subunits play a critical role in balancing neuronal excitability. Mutations in K...
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci ...
Variants in KCNQ2 encoding for Kv 7.2 neuronal K(+) channel subunits lead to a spectrum of neonatal-...