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.
International journal of molecular sciences - 27 May 2020
Stendel Claudia, D'Adamo Maria Cristina, Wiessner Manuela, Dusl Marina, Cenciarini Marta, Belia Silvia, Nematian-Ardestani Ehsan, Bauer Peter, Senderek Jan, Klopstock Thomas, Pessia Mauro
Abstract excerpt
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 encoded by the CACNA1A gene. However, previously unrecognized atypical symptoms and the genetic overlap existing between EA2, spinocerebellar ataxia type 6, familial...
Topics
- Animals
- Calcium Channels
- Cells, Cultured
- Cerebellar Ataxia
- Epilepsy
- Humans
- Loss of Function Mutation
- Male
- Middle Aged
- Phenotype