PubMed · 16638780
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Thomas V Perneger. 2006-04-25. Borges on classification.. https://doi.org/10.1093/intqhc%2Fmzl008
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The classification of the epilepsies was advanced in order to formalize efforts to identify coherent clinical entities and to develop a standardized set of diagnostic terminology for facilitating communication among workers in the field world-wide. The classification initially was, and still is today, based primarily on description and expert opinion. In the era of genomics, neuroimaging and tremendous technological and scientific advances in the neurosciences, it is time to introduce scientific principles and standards into the classification of the epilepsies. Phylogenetic systematics provides an initial model worth studying in this context. While the classification of species cannot be directly applied to the classification of epilepsy syndromes, three general points can be appreciated. (1) In evolutionary biology, there is an operationalized definition of the end point (a species). There is no such definition of a syndrome. (2) There are rules and criteria for the type of evidence and how it is evaluated to determine whether an entity does or does not represent a separate species. There are currently no such rules or criteria for epilepsy syndromes. (3) There is an underlying model (evolution) that generates the diversity among species. With the possible and only partial exception of the idiopathic generalized epilepsies, there are no models to explain the diversity among the epilepsies. Previously held beliefs and convictions must, in time, give way to dispassionate examination of testable scientific hypotheses examined with rigorously collected scientific evidence. Although current classification is in need of revision, it has also come into common use and has great practical utility. Any changes to its form and to the terminology of the classification must be made only after careful deliberation and broad consensus is reached. The change(s) should be based on agreed upon scientific criteria and processes. Any changes should represent major improvements and not merely incremental steps.
Care must be exercised not to intermingle with classification of seizures and classification of epilepsies in an inconsistent fashion. Criteria for each class must be defined as clearly as possible, and these criteria must be those which are necessary for classifying any given case. The international classification first proposed by the ILAE in 1970 was an attempt to distinguish seizures from epilepsies; the seizure types defined in the 2001 diagnostic scheme are conceptually akin to the syndromes in the 1989 classification in the sense that they imply etiological, therapeutic, and prognostic significance. However, there exists no room in the new diagnostic scheme to accommodate electro-clinical seizure types, which have been used for more than three decades. The concept of epileptic syndrome in the 1989 classifications seems to have been changed to epileptic seizure type in the 2001 diagnostic scheme, and seizure type of the latter virtually becomes synonymous with epileptic syndrome of the former. In the 2001 diagnostic scheme, seizure type can be used to supplement syndrome, and can stand alone when syndrome diagnosis cannot be made. In other words, seizure types may replace syndromes, or vice versa. We should not return to an era prior to 1970 where no distinction exists between epilepsies and seizures. In a cohort of patients with active epilepsy, to what extent is syndrome classification applicable? In 300 consecutive patients hospitalized in a tertiary center, syndromic diagnosis was applicable to only 61%. Similarly, another 100 consecutive patients, classification of epilepsy was possible but not defined as a syndrome in 32% patients, according to the 1989 classification. The 1989 syndrome classification assigned in each category "other epilepsies not defined as a syndrome." These epilepsies are diagnosed only dichotomously; idiopathic focal or generalized, symptomatic focal or generalized, or undetermined whether focal or generalized. In other words, even if we could complete a list to include all the new syndromes that may exist, it is very unlikely that it would cover all epilepsies.
Simple sequence repeat (SSR) molecular genetic markers have become important tools for a broad range of applications such as genome mapping and genetic diversity studies. SSRs are readily identified within DNA sequence data and PCR primers can be designed for their amplification. These PCR primers frequently cross amplify within related species. We report a web-based tool, SSR Primer, that integrates SPUTNIK, an SSR repeat finder, with Primer3, a primer design program, within one pipeline. On submission of multiple FASTA formatted sequences, the script screens each sequence for SSRs using SPUTNIK. Results are then parsed to Primer3 for locus specific primer design. We have applied this tool for the discovery of SSRs within the complete GenBank database, and have designed PCR amplification primers for over 13 million SSRs. The SSR Taxonomy Tree server provides web-based searching and browsing of species and taxa for the visualisation and download of these SSR amplification primers. These tools are available at http://bioinformatics.pbcbasc.latrobe.edu.au/ssrdiscovery.html.