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2.
Seizure ; 115: 100-108, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38158320

ABSTRACT

PURPOSE: To assess the impact of antiseizure medications (ASMs) with a very long half-life on long term video-EEG monitoring (LTM) in people with focal epilepsy (FE). METHODS: In this retrospective cohort study, we searched our local database for people with FE who underwent ASM reduction during LTM at the University Hospital of 'La Fe', Valencia, from January 2013 to December 2019. Taking into account the half-life of the ASM, people with FE were divided into two groups: Group A contained individuals who were taking at least one ASM with a very long half-life at admission, and Group B consisted of those not taking very long half-life ASMs. Using multivariable analysis to control for important confounders, we compared the following outcomes between both groups: seizure rates per day, time to first seizure, and LTM duration. RESULTS: Three hundred seventy individuals were included in the study (154 in Group A and 216 in Group B). The median recorded seizure rates (1.3 seizures/day, range 0-15.3 vs.1.3 seizures/day, range 0-9.3, p-value=0.68), median time to the first seizure (24 h, range 2-119 vs. 24 h, range 2-100, p-value=0.92), and median LTM duration (4 days, range 2-5 vs. 4 days, range 2-5, p-value=0.94) were similar in both groups. Multivariable analysis did not reveal any significant differences in the three outcomes between the two groups (all p-values>0.05). CONCLUSION: ASMs with a very long half-life taken as co-medication do not significantly affect important LTM outcomes, including recorded seizure rates, time to the first seizure, or LTM duration. Therefore, in general, there is no need to discontinue ASMs with a very long half-life prior to LTM.


Subject(s)
Epilepsies, Partial , Epilepsy , Humans , Epilepsy/drug therapy , Anticonvulsants/therapeutic use , Retrospective Studies , Half-Life , Epilepsies, Partial/diagnosis , Epilepsies, Partial/drug therapy , Seizures/diagnosis , Seizures/drug therapy , Electroencephalography
3.
Neurol Genet ; 8(6): e200038, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36530930

ABSTRACT

Background and Objectives: To determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from Eastern Spain. Methods: A total of 130 unrelated patients with CA, negative for common trinucleotide repeat expansions (SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17, dentatorubral pallidoluysian atrophy [DRPLA], and Friedreich ataxia), were studied with CES. Bioinformatic and genotype-phenotype analyses were performed to assess the pathogenicity of the variants encountered. Copy number variants were analyzed when appropriate. In undiagnosed dominant and sporadic cases, repeat primed PCR was used to screen for the presence of a repeat expansion in the NOP56 gene. Results: CES identified pathogenic or likely pathogenic variants in 50 families (39%), including 23 novel variants. Overall, there was a high genetic heterogeneity, and the most frequent genetic diagnosis was SPG7 (n = 15), followed by SETX (n = 6), CACNA1A (n = 5), POLR3A (n = 4), and SYNE1 (n = 3). In addition, 17 families displayed likely pathogenic/pathogenic variants in 14 different genes: KCND3 (n = 2), KIF1C (n = 2), CYP27A1A (n = 2), AFG3L2 (n = 1), ANO10 (n = 1), CAPN1 (n = 1), CWF19L1 (n = 1), ITPR1 (n = 1), KCNA1 (n = 1), OPA1 (n = 1), PNPLA6 (n = 1), SPG11 (n = 1), SPTBN2 (n = 1), and TPP1 (n = 1). Twenty-two novel variants were characterized. SCA36 was diagnosed in 11 families, all with autosomal dominant (AD) presentation. SCA36 screening increased the total diagnostic rate to 47% (n = 61/130). Ultimately, undiagnosed patients showed delayed age at onset (p < 0.05) and were more frequently sporadic. Discussion: Our study provides insight into the genetic landscape of CA in Eastern Spain. Although CES was an effective approach to capture genetic heterogeneity, most patients remained undiagnosed. SCA36 was found to be a relatively frequent form and, therefore, should be tested prior to CES in familial AD presentations in particular geographical regions.

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