Reply to letter to the editor regarding the article ‘New onset seizures at high altitude among healthy males’ published in Seizure 2022; 97: 82-87

We thank Dr Burtscher for his interest in our article and value the opportunity to clarify some aspects of our study [1]. Firstly, he raises concerns about the non-availability of seizure incidence data at altitudes below 2500m and for wide confidence intervals for each point estimate. Unfortunately, the inclusion criteria for the study specified enrollment at an altitude of >2500m and the data below this altitude was not collected. Forty-one individuals developed seizures over 39,849 person-years.

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Fever related super-refractory status epilepticus: An adulthood presentation of a novel POLG variant: A case report

Mitochondrial DNA depletion syndromes caused by POLG mutations clinically constitute a heterogeneous group and can involve any part of the neuraxis.[1] Non-syndromic presentations that do not conform with the recognised classical POLG mutation syndromes are infrequently encountered, and given their protean manifestations, require a high index of suspicion to delineate from other more common aetiologies. Here we expand the FIRES (febrile infection-related status epilepticus)- like presentation of a novel POLG mutation in a twenty-eight-year-old lady, who had a complex medical ...

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Neurological Phenomenology of the IRF2BPL Mutation Syndrome: Analysis of a New Case and Systematic Review of the Literature

IRF2BPL is an intronless gene (also known as EAP1 or c14orf4) that was mapped in the 2000 on chromosome 14q24.3 [1]. This gene codes for the 796 amino acids-long interferon regulatory factor 2 binding-like protein, which is expressed in multiple human tissues, including the brain. Albeit its functions are largely unknown, several preclinical and clinical studies have suggested a possible role in neuronal development and homeostasis [2], transcription of the gonadotropin-releasing hormone [3], modulation of the ubiquitin-proteasome pathway (UPS) [4] ...

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Audit of epilepsy healthcare provision in a large UK category B prison

There are NICE guidelines and quality standards outlining principles of effective care provision for patients with epilepsy in England1. Nearly fourteen years ago, in 2008, Tittensor and colleagues2 highlighted that for people with epilepsy within the prison system the standards applicable at that time were not met (the standards have been revised since.) The UK prison population is currently around 80,000 and has risen by 74 percent in the last 30 years3 There are important demographic challenges in this population ...

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