Objective: To describe aspects in clinical and genetic presentation in five patients with episodic ataxia type 2 (EA2). Methods: CACNA1A gene screening identified a mutation in three probands and in two of their children. Results: The three probands had attacks of imbalance, associated with dizziness/vertigo and/or headache. Two of them had independent migraine attacks. Interictal oculomotor examination revealed a gaze evoked nystagmus and central oculomotor signs. Two probands had a history of strabismus. All responded well to acetazolamide. Two children were found to have both clinical and genetic abnormalities. At 23 months, one child started to have short attacks of imbalance mimicking benign paroxysmal vertigo of childhood. Then, the frequency and duration of his attacks increased and some were associated with headache. The other child developed permanent imbalance with falls at the age of 2 years, strabismus, hyperactivity and slight to moderate cognitive deficiency. When aged 10 years, this was further complicated by episodic ataxia. Genetic analysis revealed three novel mutations in the calcium channel gene CACNA1A (chromosome 19p13). The two children had the same genetic abnormality as their parents. Conclusion: EA2 may present with still unknown genetic mutations in adults, and with large and various phenotypes in children, such as short attacks of imbalance or permanent imbalance, cognitive deficiency, and possibly strabismus and hyperactivity.

Conclusion. Our data prove that lasers are safe and useful instruments in stapes surgery. Good postoperative results can be attained in both KTP and Er: YAG lasers. There was no significant inner ear damage related to the Er: YAG laser use. Objective. To compare the postoperative results of stapedotomies performed with KTP and Erbium: YAG lasers in patients with otosclerosis in order to assess the risk of Er: YAG for the inner ear. Patients and methods. The charts of 152 consecutive adult patients who underwent primary laser stapedotomies for otosclerosis from 1999 to 2005 were reviewed. One hundred and thirty-seven stapedotomies (98 patients) were performed using the KTP laser and 54 stapedotomies (54 patients) were performed with Er: YAG laser. All the patients were separated in two groups according to the type of laser, which was used. Hearing results were analyzed according to the Committee on Hearing and Equilibrium Guidelines of the American Academy of Otolaryngology—Head and Neck Surgery. Pure-tone audiometry was performed before the surgery, three months and one year postoperatively. Results. The study indicated that KTP and Er: YAG stapedotomies have similar rates of the air-bone gap closure. There was no significant postoperative sensorineural hearing loss found in both techniques.