Article
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
Lancet (London, England) - 8 Sept 2001
Jouvenceau A, Eunson L H, Spauschus A, Ramesh V, Zuberi S M, Kullmann D M, Hanna M G
Abstract excerpt
BACKGROUND: The genetic basis of most common forms of human paroxysmal disorders of the central nervous system, such as epilepsy, remains unidentified. Several animal models of absence epilepsy, commonly accompanied by ataxia, are caused by mutations in the brain P/Q-type voltage-gated calcium (Ca(2+)) channel. We aimed to determine whether the P/Q-type Ca(2+) channel is associated with both epilepsy and episodic...
Topics
- Adult
- Brain
- Calcium Channels
- Calcium Channels, N-Type
- Calcium Channels, P-Type
- Calcium Channels, Q-Type
- Chromosomes, Human, Pair 19
- Epilepsy, Absence
- Gait Ataxia
- Humans
- Male