PubMed 21166127

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , KCNQ3 , Kir1.1 , Kir2.1 , Kv1.1 , Kv1.8 , Kv7.1 , Kv7.3

Title: [Potassium channelopathies and Morvan's syndromes].

Authors: Georges Serratrice, Jean-François Pellissier, Jacques Serra-Trice, Pierre-Jean Weiller

Journal, date & volume: Bull. Acad. Natl. Med., 2010 Feb , 194, 391-406; discussion 406-7

PubMed link:

Interest in Morvan's disease or syndrome has grown, owing to its close links with various potassium channelopathies. Potassium is crucial for gating mechanisms (channel opening and closing), and especially for repolarization. Defective potassium regulation can lead to neuronal hyperexcitability. There are three families of potassium channels: voltage-gated potassium channels or VGKC (Kv1.1-Kv1.8), inward rectifier K+ channels (Kir), and two-pore channels (K2p). VGK channels are the commonest, and especially those belonging to the Shaker group (neuromyotonia and Morvan's syndrome, limbic encephalitis, and type 1 episodic ataxia). Brain and heart K+ channelopathies are a separate group due to KCNQ1 mutation (severe type 2 long QT syndrome). Kv7 channel mutations (in KNQ2 and KCNQ3) are responsible for benign familial neonatal seizures. Mutation of the Ca+ activated K+ channel gene causes epilepsy and paroxysmal dyskinesia. Inward rectifier K+ channels regulate intracellular potassium levels. The DEND syndrome, a treatable channelopathy of the brain and pancreas, is due to KCNJ1 mutation. Andersen's syndrome, due to KCNJ2 mutation, is characterized by periodic paralysis, cardiac arrythmia, and dysmorphia. Voltage-insensitive K2p channelopathies form a final group.