CACNA1A encodes the Cav2.1 (P/Q-type) channel whose spectrum extends from FHM1/EA2/SCA6 to epilepsy and vertigo, but penetrance-especially sex differences-remains unclear. We report a three-generation family with CACNA1A c.5610del, detail electroclinical features, assess sex-stratified penetrance, and discuss individualised therapy.
Audiologists encountering patients with unexplained episodic vertigo alongside migraine, ataxia, or family history of these conditions should consider referral for genetic evaluation of CACNA1A and related channelopathies.
This case series highlights the wide spectrum of symptoms caused by CACNA1A variants, reinforcing that episodic vertigo in the clinic may have an underlying genetic channelopathy that warrants multidisciplinary and genetic evaluation.
- 01CACNA1A c.5610del variant identified in a three-generation family with epilepsy, ataxia, migraine, and vertigo.