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Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α1A subunit of the P/Q-type voltage-gated calcium channel Cav2.1. The vast majority of EA2 disease-causing variants are loss-of-function (LoF) point changes leading to decreased channel currents. CACNA1A exonic deletions have also been reported in EA2 using quantitative approaches. We performed a mutational screening of the CACNA1A gene, including the promoter and 3′UTR regions, in 49 unrelated patients diagnosed with episodic ataxia. When pathogenic variants were not found by sequencing, we performed a copy number variant (CNV) analysis to screen for duplications or deletions. Overall, sequencing screening allowed identification of six different point variants (three nonsense and three missense changes) and two coding indels, one of them found in two unrelated patients. Additionally, CNV analysis identified a deletion in a patient spanning exon 35 as a result of a recombination event between flanking intronic Alu sequences. This study allowed identification of potentially pathogenic alterations in our sample, five of them novel, which cover 20% of the patients (10/49). Our data suggest that most of these variants are disease-causing, although functional studies are required.

We emphasize that ptosis should be studied as a complex symptom. Efforts should be made to identify accompanying neurologic or ophthalmologic signs in clinical examination that could lead to a diagnosis. A growing number of diagnostics tests are available in the field, especially in genetics. Meanwhile, surgery continues being the most used therapeutic approach for these patients.

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This study was conducted to analyze the prevalence and features of chronic or recurrent headache in Systemic Lupus Erythematosus (SLE), and also the relationship of such headache with other manifestations of the disease. A total of 76 patients (69 women and 7 men) with a mean age of 40 years (r: 24-74 years) were included. An overall severity index for SLE was applied. Fifty-two patients (68%) presented headache, 27 (52%) being vascular and 25 (48%) muscle contraction type. Headache in general was more frequent after the onset of SLE (p less than .001). Prevalence of muscle contraction headache in particular was greater following manifestations of SLE. Family history of migraine was recorded in 54% of the patients with vascular headache. This antecedent was more common in patients in whom migraine started before the onset of SLE (p = .05). A greater number of neuropsychiatric symptoms was observed in the patients with vascular headache and family history (p less than .02). Patients with thrombocytopenia presented headache less frequently (p less than .05). Our results showed headache, of both vascular and muscle contraction types, to be frequent in SLE. We note that there is an increased frequency of muscle contraction headache after the onset of SLE, and that there is a migraine-like headache directly related to SLE. Migrainous patients with familial history have a greater probability to suffer neuropsychiatric manifestations. Finally, it is suggested that severity of SLE is not related to presence of headache.