- Article
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia
- Claudia Stendel,
- Maria Cristina D’Adamo,
- Manuela Wiessner,
- Marina Dusl,
- Marta Cenciarini,
- Silvia Belia,
- Ehsan Nematian-Ardestani,
- Peter Bauer,
- Jan Senderek and
- Mauro Pessia
- + 1 author
Episodic ataxia type 2 (EA2) is characterized by paroxysmal attacks of ataxia with typical onset in childhood or early adolescence. The disease is associated with mutations in the voltage-gated calcium channel alpha 1A subunit (Cav2.1) that is encode...