Voltage‐gated sodium channels initiate action potentials in nerve, muscle and other
excitable cells. The sodium current that initiates the nerve action potential was discovered by …

Cl− channels reside both in the plasma membrane and in intracellular organelles. Their
functions range from ion homeostasis to cell volume regulation, transepithelial transport, and …

В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …

Animals are biological transformers of dietary matter and energy to produce high-quality
foods and wools for human consumption and use. Mammals, birds, fish, and shrimp require …

Voltage-gated sodium (NaV) channels play fundamental roles in initiating and propagating
action potentials. NaV1. 3 is involved in numerous physiological processes including …

Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent
burning pain with redness and heat in the extremities. A previous study established the …

Generalized epilepsy with febrile seizures plus type 2 (GEFS+ 2, MIM 604233) is an
autosomal dominant disorder characterized by febrile seizures in children and afebrile …

Humans have over 70 potassium channel genes, but only some of these have been linked
to disease. In this respect, the KCNQ family of potassium channels is exceptional: mutations …

In myotonic dystrophy (dystrophia myotonica, DM), expression of RNAs that contain
expanded CUG or CCUG repeats is associated with degeneration and repetitive action …

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of
ion channels located in the membranes of all cells and many cellular organelles. These …