Читать книгу Neurology - Charles H. Clarke - Страница 84
Ion Channels and Inherited Mutations
ОглавлениеChanges in ion channels can explain clinical features. Monogenic channelopathies provide insights into disease mechanisms and whilst they are rare, they frequently have features seen in common sporadic disorders such as epilepsy and migraine. The study of channelopathies can identify signalling pathways in many diseases. One feature is that many channelopathies cause discrete paroxysms; function returns to normal between attacks. Most channelopathies are AD inherited but this may simply reflect that AR disorders are hard to identify.
Channelopathies can present in all areas of neurology. The broad groups are summarised here.