Publications by authors named "Vaneesha S Gibbons"
Article Synopsis
- Ion channel dysfunction can lead to neurological disorders by affecting ion flow, neuronal excitability, and neurotransmitter release, particularly emphasizing the significance of the CACNA1A gene in episodic ataxia type 2.
- In a study of eight patients with genetically confirmed episodic ataxia type 2, mutations in the CACNA1A gene were found, and although nerve conduction studies were normal, patients exhibited increased jitter, indicating unstable neuromuscular transmission.
- Comparative assessments revealed that all patients shared similar excitability abnormalities in their median motor axons, suggesting that Cav2.1 dysfunction may impact axon excitability indirectly through disrupted calcium currents during development.
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including three adult post-mortem cases with Dravet syndrome.
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